SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515864_131515951delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA , CM000671.2:g.131515864_131515951delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | GRCh38 |
| NC_000009.11:g.134391251_134391338delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA , CM000671.1:g.134391251_134391338delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | GRCh37 |
| NC_000009.10:g.133381072_133381159delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NCBI36 |
| NG_008896.1:g.17963_18050delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | |
| NG_008896.2:g.17963_18050delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000343034.7:n.1110+342_1110+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000404875.7:n.1812+342_1812+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000423007.6:c.1329+342_1329+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000404119.2:n.1329+342_1329+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000677295.2:c.*1616+342_*1616+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000504346.2:n.*1616+342_*1616+429delinsGCACTTTCTCTAACAC... | |
| ENST00000678264.2:c.*1455+342_*1455+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503157.2:n.*1455+342_*1455+429delinsGCACTTTCTCTAACAC... | |
| ENST00000682070.1:n.1737+342_1737+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000682539.1:c.97+342_97+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000682813.1:n.1537+342_1537+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000683392.1:n.4019+342_4019+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000683712.1:n.1677+342_1677+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000683900.1:n.3172+342_3172+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000684062.1:n.1938+342_1938+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000684579.1:n.3118+342_3118+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000341012.12:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000343034.7:n.1110+342_1110+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000372220.5:c.141+342_141+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000361294.5:n.141+342_141+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000372228.9:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000361302.3:n.1338+342_1338+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000402686.8:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA MANE Select | ENSP00000385797.4:n.1272+342_1272+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000676640.1:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503281.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000676803.1:c.447+342_447+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503093.1:n.447+342_447+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000676835.1:c.*487+342_*487+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000502911.1:n.*487+342_*487+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000677029.1:c.816+342_816+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000502936.1:n.816+342_816+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000677099.1:c.*982+342_*982+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000504553.1:n.*982+342_*982+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000677216.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503772.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000677295.1:c.*649+342_*649+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000504346.1:n.*649+342_*649+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000677444.1:c.1078+342_1078+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000677586.1:n.753+342_753+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000677626.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503552.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000677677.1:n.1232+342_1232+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000677853.1:c.*280+342_*280+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503488.1:n.*280+342_*280+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000677944.1:c.534+342_534+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000678264.1:c.*649+342_*649+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503157.1:n.*649+342_*649+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000678303.1:c.1182+342_1182+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503696.1:n.1182+342_1182+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000678366.1:c.*1521+342_*1521+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000504353.1:n.*1521+342_*1521+429delinsGCACTTTCTCTAACAC... | |
| ENST00000678546.1:c.*1217+342_*1217+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503062.1:n.*1217+342_*1217+429delinsGCACTTTCTCTAACAC... | |
| ENST00000678548.1:c.*1344+342_*1344+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503934.1:n.*1344+342_*1344+429delinsGCACTTTCTCTAACAC... | |
| ENST00000678626.1:n.969+342_969+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000678733.1:c.353+342_353+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000678739.1:c.*1598+342_*1598+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503806.1:n.*1598+342_*1598+429delinsGCACTTTCTCTAACAC... | |
| ENST00000678795.1:n.359+342_359+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000678833.1:c.*719+342_*719+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503893.1:n.*719+342_*719+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000678942.1:c.452+342_452+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000504690.1:n.452+342_452+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000679023.1:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503718.1:n.1110+342_1110+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000679076.1:c.891+342_891+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| ENST00000679111.1:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000504257.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000679189.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000503356.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000341012.11:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000343034.7:n.1110+342_1110+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000372228.7:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000361302.3:n.1338+342_1338+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000402686.7:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000385797.3:n.1272+342_1272+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000404875.6:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000384531.2:n.921+342_921+429delinsGCACTTTCTCTAACACAGGA... | |
| ENST00000423007.5:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ENSP00000404119.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAG... | |
| ENST00000485278.5:n.1827+342_1827+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NM_001077365.1:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001070833.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001077366.1:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001070834.1:n.1110+342_1110+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001136113.1:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001129585.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001136114.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001129586.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_007171.3:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_009102.3:n.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACT... | |
| XM_005272156.1:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_005272213.1:n.1338+342_1338+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_005272158.1:c.1176+342_1176+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_005272215.1:n.1176+342_1176+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_005272159.1:c.987+342_987+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_005272216.1:n.987+342_987+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_005272162.1:c.141+342_141+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_005272219.1:n.141+342_141+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_006716932.1:c.987+342_987+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_006716995.1:n.987+342_987+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_011518140.1:c.1191+342_1191+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516442.1:n.1191+342_1191+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518141.1:c.1125+342_1125+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516443.1:n.1125+342_1125+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518142.1:c.1029+342_1029+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516444.1:n.1029+342_1029+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518143.1:c.1023+342_1023+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516445.1:n.1023+342_1023+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518144.1:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516446.1:n.1338+342_1338+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518145.1:c.882+342_882+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516447.1:n.882+342_882+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_011518146.1:c.1023+342_1023+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516448.1:n.1023+342_1023+429delinsGCACTTTCTCTAACACAGGAC... | |
| XR_929703.1:n.1514+342_1514+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NM_001353193.1:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340122.1:n.1338+342_1338+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353194.1:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340123.1:n.1110+342_1110+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353195.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340124.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001353196.1:c.1182+342_1182+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340125.1:n.1182+342_1182+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353197.1:c.1176+342_1176+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340126.1:n.1176+342_1176+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353198.1:c.1176+342_1176+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340127.1:n.1176+342_1176+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353199.1:c.987+342_987+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340128.1:n.987+342_987+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001353200.1:c.816+342_816+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340129.1:n.816+342_816+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NR_148391.1:n.1322+342_1322+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148392.1:n.1540+342_1540+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148393.1:n.1322+342_1322+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148394.1:n.1215+342_1215+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148395.1:n.1474+342_1474+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148396.1:n.1108+342_1108+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148397.1:n.1372+342_1372+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148398.1:n.1327+342_1327+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148399.1:n.1714+342_1714+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148400.1:n.1313+342_1313+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| XM_005272162.3:c.141+342_141+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_005272219.1:n.141+342_141+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_006716932.2:c.987+342_987+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_006716995.1:n.987+342_987+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_011518140.2:c.1191+342_1191+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516442.1:n.1191+342_1191+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518141.2:c.1125+342_1125+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516443.1:n.1125+342_1125+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518142.2:c.1029+342_1029+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516444.1:n.1029+342_1029+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518143.2:c.1023+342_1023+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516445.1:n.1023+342_1023+429delinsGCACTTTCTCTAACACAGGAC... | |
| XM_011518145.2:c.882+342_882+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_011516447.1:n.882+342_882+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_017014205.2:c.141+342_141+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_016869694.1:n.141+342_141+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_024447380.1:c.141+342_141+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_024303148.1:n.141+342_141+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_024447381.1:c.447+342_447+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_024303149.1:n.447+342_447+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XM_024447382.1:c.141+342_141+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | XP_024303150.1:n.141+342_141+429delinsGCACTTTCTCTAACACAGGACAC... | |
| XR_001746160.2:n.1442+342_1442+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| XR_001746162.2:n.1508+342_1508+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| XR_001746164.1:n.1225+342_1225+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| XR_001746166.2:n.1659+342_1659+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NM_001077365.2:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA MANE Select | NP_001070833.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001077366.2:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001070834.1:n.1110+342_1110+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001136113.2:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001129585.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001136114.2:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001129586.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001353193.2:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340122.2:n.1338+342_1338+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353194.2:c.1110+342_1110+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340123.1:n.1110+342_1110+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353195.2:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340124.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001353196.2:c.1182+342_1182+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340125.1:n.1182+342_1182+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353197.2:c.1176+342_1176+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340126.2:n.1176+342_1176+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353198.2:c.1176+342_1176+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340127.2:n.1176+342_1176+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001353199.2:c.987+342_987+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340128.2:n.987+342_987+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001353200.2:c.816+342_816+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001340129.1:n.816+342_816+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001374689.1:c.1260+342_1260+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001361618.1:n.1260+342_1260+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001374690.1:c.1272+342_1272+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001361619.1:n.1272+342_1272+429delinsGCACTTTCTCTAACACAGGAC... | |
| NM_001374691.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001361620.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001374692.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001361621.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001374693.1:c.921+342_921+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001361622.1:n.921+342_921+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_001374695.1:c.882+342_882+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_001361624.1:n.882+342_882+429delinsGCACTTTCTCTAACACAGGACAC... | |
| NM_007171.4:c.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | NP_009102.4:n.1338+342_1338+429delinsGCACTTTCTCTAACACAGGACACT... | |
| NR_148391.2:n.1306+342_1306+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148392.2:n.1524+342_1524+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148393.2:n.1306+342_1306+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148394.2:n.1199+342_1199+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148395.2:n.1458+342_1458+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148396.2:n.1092+342_1092+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148397.2:n.1356+342_1356+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148398.2:n.1311+342_1311+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148399.2:n.1698+342_1698+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA | ||
| NR_148400.2:n.1297+342_1297+429delinsGCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACATGGAGCACTTCCTCACAGGGAGCACTTCCTCACACGGAA |