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.131515865_131515913delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT , CM000671.2:g.131515865_131515913delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | GRCh38 |
| NC_000009.11:g.134391252_134391300delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT , CM000671.1:g.134391252_134391300delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | GRCh37 |
| NC_000009.10:g.133381073_133381121delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NCBI36 |
| NG_008896.1:g.17964_18012delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | |
| NG_008896.2:g.17964_18012delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000343034.7:n.1110+343_1110+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000404875.7:n.1812+343_1812+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000423007.6:c.1329+343_1329+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000404119.2:n.1329+343_1329+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000677295.2:c.*1616+343_*1616+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000504346.2:n.*1616+343_*1616+391delinsCACTTTCTCTAACACA... | |
| ENST00000678264.2:c.*1455+343_*1455+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503157.2:n.*1455+343_*1455+391delinsCACTTTCTCTAACACA... | |
| ENST00000682070.1:n.1737+343_1737+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000682539.1:c.97+343_97+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000682813.1:n.1537+343_1537+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000683392.1:n.4019+343_4019+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000683712.1:n.1677+343_1677+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000683900.1:n.3172+343_3172+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000684062.1:n.1938+343_1938+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000684579.1:n.3118+343_3118+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000341012.12:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000343034.7:n.1110+343_1110+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000372220.5:c.141+343_141+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000361294.5:n.141+343_141+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000372228.9:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000361302.3:n.1338+343_1338+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000402686.8:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT MANE Select | ENSP00000385797.4:n.1272+343_1272+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000676640.1:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503281.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000676803.1:c.447+343_447+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503093.1:n.447+343_447+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000676835.1:c.*487+343_*487+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000502911.1:n.*487+343_*487+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000677029.1:c.816+343_816+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000502936.1:n.816+343_816+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000677099.1:c.*982+343_*982+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000504553.1:n.*982+343_*982+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000677216.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503772.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000677295.1:c.*649+343_*649+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000504346.1:n.*649+343_*649+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000677444.1:c.1078+343_1078+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000677586.1:n.753+343_753+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000677626.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503552.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000677677.1:n.1232+343_1232+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000677853.1:c.*280+343_*280+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503488.1:n.*280+343_*280+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000677944.1:c.534+343_534+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000678264.1:c.*649+343_*649+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503157.1:n.*649+343_*649+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000678303.1:c.1182+343_1182+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503696.1:n.1182+343_1182+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000678366.1:c.*1521+343_*1521+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000504353.1:n.*1521+343_*1521+391delinsCACTTTCTCTAACACA... | |
| ENST00000678546.1:c.*1217+343_*1217+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503062.1:n.*1217+343_*1217+391delinsCACTTTCTCTAACACA... | |
| ENST00000678548.1:c.*1344+343_*1344+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503934.1:n.*1344+343_*1344+391delinsCACTTTCTCTAACACA... | |
| ENST00000678626.1:n.969+343_969+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000678733.1:c.353+343_353+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000678739.1:c.*1598+343_*1598+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503806.1:n.*1598+343_*1598+391delinsCACTTTCTCTAACACA... | |
| ENST00000678795.1:n.359+343_359+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000678833.1:c.*719+343_*719+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503893.1:n.*719+343_*719+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000678942.1:c.452+343_452+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000504690.1:n.452+343_452+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000679023.1:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503718.1:n.1110+343_1110+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000679076.1:c.891+343_891+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| ENST00000679111.1:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000504257.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000679189.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000503356.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000341012.11:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000343034.7:n.1110+343_1110+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000372228.7:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000361302.3:n.1338+343_1338+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000402686.7:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000385797.3:n.1272+343_1272+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000404875.6:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000384531.2:n.921+343_921+391delinsCACTTTCTCTAACACAGGAC... | |
| ENST00000423007.5:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ENSP00000404119.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGG... | |
| ENST00000485278.5:n.1827+343_1827+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NM_001077365.1:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001070833.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001077366.1:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001070834.1:n.1110+343_1110+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001136113.1:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001129585.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001136114.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001129586.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_007171.3:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_009102.3:n.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTT... | |
| XM_005272156.1:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_005272213.1:n.1338+343_1338+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_005272158.1:c.1176+343_1176+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_005272215.1:n.1176+343_1176+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_005272159.1:c.987+343_987+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_005272216.1:n.987+343_987+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_005272162.1:c.141+343_141+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_005272219.1:n.141+343_141+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_006716932.1:c.987+343_987+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_006716995.1:n.987+343_987+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_011518140.1:c.1191+343_1191+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516442.1:n.1191+343_1191+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518141.1:c.1125+343_1125+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516443.1:n.1125+343_1125+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518142.1:c.1029+343_1029+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516444.1:n.1029+343_1029+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518143.1:c.1023+343_1023+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516445.1:n.1023+343_1023+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518144.1:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516446.1:n.1338+343_1338+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518145.1:c.882+343_882+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516447.1:n.882+343_882+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_011518146.1:c.1023+343_1023+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516448.1:n.1023+343_1023+391delinsCACTTTCTCTAACACAGGACA... | |
| XR_929703.1:n.1514+343_1514+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NM_001353193.1:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340122.1:n.1338+343_1338+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353194.1:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340123.1:n.1110+343_1110+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353195.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340124.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001353196.1:c.1182+343_1182+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340125.1:n.1182+343_1182+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353197.1:c.1176+343_1176+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340126.1:n.1176+343_1176+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353198.1:c.1176+343_1176+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340127.1:n.1176+343_1176+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353199.1:c.987+343_987+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340128.1:n.987+343_987+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001353200.1:c.816+343_816+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340129.1:n.816+343_816+391delinsCACTTTCTCTAACACAGGACACT... | |
| NR_148391.1:n.1322+343_1322+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148392.1:n.1540+343_1540+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148393.1:n.1322+343_1322+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148394.1:n.1215+343_1215+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148395.1:n.1474+343_1474+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148396.1:n.1108+343_1108+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148397.1:n.1372+343_1372+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148398.1:n.1327+343_1327+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148399.1:n.1714+343_1714+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148400.1:n.1313+343_1313+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| XM_005272162.3:c.141+343_141+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_005272219.1:n.141+343_141+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_006716932.2:c.987+343_987+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_006716995.1:n.987+343_987+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_011518140.2:c.1191+343_1191+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516442.1:n.1191+343_1191+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518141.2:c.1125+343_1125+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516443.1:n.1125+343_1125+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518142.2:c.1029+343_1029+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516444.1:n.1029+343_1029+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518143.2:c.1023+343_1023+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516445.1:n.1023+343_1023+391delinsCACTTTCTCTAACACAGGACA... | |
| XM_011518145.2:c.882+343_882+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_011516447.1:n.882+343_882+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_017014205.2:c.141+343_141+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_016869694.1:n.141+343_141+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_024447380.1:c.141+343_141+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_024303148.1:n.141+343_141+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_024447381.1:c.447+343_447+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_024303149.1:n.447+343_447+391delinsCACTTTCTCTAACACAGGACACT... | |
| XM_024447382.1:c.141+343_141+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | XP_024303150.1:n.141+343_141+391delinsCACTTTCTCTAACACAGGACACT... | |
| XR_001746160.2:n.1442+343_1442+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| XR_001746162.2:n.1508+343_1508+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| XR_001746164.1:n.1225+343_1225+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| XR_001746166.2:n.1659+343_1659+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NM_001077365.2:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT MANE Select | NP_001070833.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001077366.2:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001070834.1:n.1110+343_1110+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001136113.2:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001129585.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001136114.2:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001129586.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001353193.2:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340122.2:n.1338+343_1338+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353194.2:c.1110+343_1110+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340123.1:n.1110+343_1110+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353195.2:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340124.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001353196.2:c.1182+343_1182+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340125.1:n.1182+343_1182+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353197.2:c.1176+343_1176+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340126.2:n.1176+343_1176+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353198.2:c.1176+343_1176+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340127.2:n.1176+343_1176+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001353199.2:c.987+343_987+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340128.2:n.987+343_987+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001353200.2:c.816+343_816+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001340129.1:n.816+343_816+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001374689.1:c.1260+343_1260+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001361618.1:n.1260+343_1260+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001374690.1:c.1272+343_1272+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001361619.1:n.1272+343_1272+391delinsCACTTTCTCTAACACAGGACA... | |
| NM_001374691.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001361620.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001374692.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001361621.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001374693.1:c.921+343_921+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001361622.1:n.921+343_921+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_001374695.1:c.882+343_882+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_001361624.1:n.882+343_882+391delinsCACTTTCTCTAACACAGGACACT... | |
| NM_007171.4:c.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | NP_009102.4:n.1338+343_1338+391delinsCACTTTCTCTAACACAGGACACTT... | |
| NR_148391.2:n.1306+343_1306+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148392.2:n.1524+343_1524+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148393.2:n.1306+343_1306+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148394.2:n.1199+343_1199+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148395.2:n.1458+343_1458+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148396.2:n.1092+343_1092+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148397.2:n.1356+343_1356+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148398.2:n.1311+343_1311+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148399.2:n.1698+343_1698+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT | ||
| NR_148400.2:n.1297+343_1297+391delinsCACTTTCTCTAACACAGGACACTTCCTCACATGGAGCACTTCCTCACAT |