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.131515927_131516057del , CM000671.2:g.131515927_131516057del | GRCh38 |
| NC_000009.11:g.134391314_134391444del , CM000671.1:g.134391314_134391444del | GRCh37 |
| NC_000009.10:g.133381135_133381265del | NCBI36 |
| NG_008896.1:g.18026_18156del | |
| NG_008896.2:g.18026_18156del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+405_1110+535del | ENSP00000343034.7:n.1110+405_1110+535del | |
| ENST00000404875.7:n.1812+405_1812+535del | ||
| ENST00000423007.6:c.1329+405_1329+535del | ENSP00000404119.2:n.1329+405_1329+535del | |
| ENST00000677295.2:c.*1616+405_*1616+535del | ENSP00000504346.2:n.*1616+405_*1616+535del | |
| ENST00000678264.2:c.*1455+405_*1455+535del | ENSP00000503157.2:n.*1455+405_*1455+535del | |
| ENST00000682070.1:n.1737+405_1737+535del | ||
| ENST00000682539.1:c.97+405_97+535del | ||
| ENST00000682813.1:n.1537+405_1537+535del | ||
| ENST00000683392.1:n.4019+405_4019+535del | ||
| ENST00000683712.1:n.1677+405_1677+535del | ||
| ENST00000683900.1:n.3172+405_3172+535del | ||
| ENST00000684062.1:n.1938+405_1938+535del | ||
| ENST00000684579.1:n.3118+405_3118+535del | ||
| ENST00000341012.12:c.1110+405_1110+535del | ENSP00000343034.7:n.1110+405_1110+535del | |
| ENST00000372220.5:c.141+405_141+535del | ENSP00000361294.5:n.141+405_141+535del | |
| ENST00000372228.9:c.1338+405_1338+535del | ENSP00000361302.3:n.1338+405_1338+535del | |
| ENST00000402686.8:c.1272+405_1272+535del MANE Select | ENSP00000385797.4:n.1272+405_1272+535del | |
| ENST00000676640.1:c.1272+405_1272+535del | ENSP00000503281.1:n.1272+405_1272+535del | |
| ENST00000676803.1:c.447+405_447+535del | ENSP00000503093.1:n.447+405_447+535del | |
| ENST00000676835.1:c.*487+405_*487+535del | ENSP00000502911.1:n.*487+405_*487+535del | |
| ENST00000677029.1:c.816+405_816+535del | ENSP00000502936.1:n.816+405_816+535del | |
| ENST00000677099.1:c.*982+405_*982+535del | ENSP00000504553.1:n.*982+405_*982+535del | |
| ENST00000677216.1:c.921+405_921+535del | ENSP00000503772.1:n.921+405_921+535del | |
| ENST00000677295.1:c.*649+405_*649+535del | ENSP00000504346.1:n.*649+405_*649+535del | |
| ENST00000677444.1:c.1078+405_1078+535del | ||
| ENST00000677586.1:n.753+405_753+535del | ||
| ENST00000677626.1:c.921+405_921+535del | ENSP00000503552.1:n.921+405_921+535del | |
| ENST00000677677.1:n.1232+405_1232+535del | ||
| ENST00000677853.1:c.*280+405_*280+535del | ENSP00000503488.1:n.*280+405_*280+535del | |
| ENST00000677944.1:c.534+405_534+535del | ||
| ENST00000678264.1:c.*649+405_*649+535del | ENSP00000503157.1:n.*649+405_*649+535del | |
| ENST00000678303.1:c.1182+405_1182+535del | ENSP00000503696.1:n.1182+405_1182+535del | |
| ENST00000678366.1:c.*1521+405_*1521+535del | ENSP00000504353.1:n.*1521+405_*1521+535del | |
| ENST00000678546.1:c.*1217+405_*1217+535del | ENSP00000503062.1:n.*1217+405_*1217+535del | |
| ENST00000678548.1:c.*1344+405_*1344+535del | ENSP00000503934.1:n.*1344+405_*1344+535del | |
| ENST00000678626.1:n.969+405_969+535del | ||
| ENST00000678733.1:c.353+405_353+535del | ||
| ENST00000678739.1:c.*1598+405_*1598+535del | ENSP00000503806.1:n.*1598+405_*1598+535del | |
| ENST00000678795.1:n.359+405_359+535del | ||
| ENST00000678833.1:c.*719+405_*719+535del | ENSP00000503893.1:n.*719+405_*719+535del | |
| ENST00000678942.1:c.452+405_452+535del | ENSP00000504690.1:n.452+405_452+535del | |
| ENST00000679023.1:c.1110+405_1110+535del | ENSP00000503718.1:n.1110+405_1110+535del | |
| ENST00000679076.1:c.891+405_891+535del | ||
| ENST00000679111.1:c.1272+405_1272+535del | ENSP00000504257.1:n.1272+405_1272+535del | |
| ENST00000679189.1:c.921+405_921+535del | ENSP00000503356.1:n.921+405_921+535del | |
| ENST00000341012.11:c.1110+405_1110+535del | ENSP00000343034.7:n.1110+405_1110+535del | |
| ENST00000372228.7:c.1338+405_1338+535del | ENSP00000361302.3:n.1338+405_1338+535del | |
| ENST00000402686.7:c.1272+405_1272+535del | ENSP00000385797.3:n.1272+405_1272+535del | |
| ENST00000404875.6:c.921+405_921+535del | ENSP00000384531.2:n.921+405_921+535del | |
| ENST00000423007.5:c.1272+405_1272+535del | ENSP00000404119.1:n.1272+405_1272+535del | |
| ENST00000485278.5:n.1827+405_1827+535del | ||
| NM_001077365.1:c.1272+405_1272+535del | NP_001070833.1:n.1272+405_1272+535del | |
| NM_001077366.1:c.1110+405_1110+535del | NP_001070834.1:n.1110+405_1110+535del | |
| NM_001136113.1:c.1272+405_1272+535del | NP_001129585.1:n.1272+405_1272+535del | |
| NM_001136114.1:c.921+405_921+535del | NP_001129586.1:n.921+405_921+535del | |
| NM_007171.3:c.1338+405_1338+535del | NP_009102.3:n.1338+405_1338+535del | |
| XM_005272156.1:c.1338+405_1338+535del | XP_005272213.1:n.1338+405_1338+535del | |
| XM_005272158.1:c.1176+405_1176+535del | XP_005272215.1:n.1176+405_1176+535del | |
| XM_005272159.1:c.987+405_987+535del | XP_005272216.1:n.987+405_987+535del | |
| XM_005272162.1:c.141+405_141+535del | XP_005272219.1:n.141+405_141+535del | |
| XM_006716932.1:c.987+405_987+535del | XP_006716995.1:n.987+405_987+535del | |
| XM_011518140.1:c.1191+405_1191+535del | XP_011516442.1:n.1191+405_1191+535del | |
| XM_011518141.1:c.1125+405_1125+535del | XP_011516443.1:n.1125+405_1125+535del | |
| XM_011518142.1:c.1029+405_1029+535del | XP_011516444.1:n.1029+405_1029+535del | |
| XM_011518143.1:c.1023+405_1023+535del | XP_011516445.1:n.1023+405_1023+535del | |
| XM_011518144.1:c.1338+405_1338+535del | XP_011516446.1:n.1338+405_1338+535del | |
| XM_011518145.1:c.882+405_882+535del | XP_011516447.1:n.882+405_882+535del | |
| XM_011518146.1:c.1023+405_1023+535del | XP_011516448.1:n.1023+405_1023+535del | |
| XR_929703.1:n.1514+405_1514+535del | ||
| NM_001353193.1:c.1338+405_1338+535del | NP_001340122.1:n.1338+405_1338+535del | |
| NM_001353194.1:c.1110+405_1110+535del | NP_001340123.1:n.1110+405_1110+535del | |
| NM_001353195.1:c.921+405_921+535del | NP_001340124.1:n.921+405_921+535del | |
| NM_001353196.1:c.1182+405_1182+535del | NP_001340125.1:n.1182+405_1182+535del | |
| NM_001353197.1:c.1176+405_1176+535del | NP_001340126.1:n.1176+405_1176+535del | |
| NM_001353198.1:c.1176+405_1176+535del | NP_001340127.1:n.1176+405_1176+535del | |
| NM_001353199.1:c.987+405_987+535del | NP_001340128.1:n.987+405_987+535del | |
| NM_001353200.1:c.816+405_816+535del | NP_001340129.1:n.816+405_816+535del | |
| NR_148391.1:n.1322+405_1322+535del | ||
| NR_148392.1:n.1540+405_1540+535del | ||
| NR_148393.1:n.1322+405_1322+535del | ||
| NR_148394.1:n.1215+405_1215+535del | ||
| NR_148395.1:n.1474+405_1474+535del | ||
| NR_148396.1:n.1108+405_1108+535del | ||
| NR_148397.1:n.1372+405_1372+535del | ||
| NR_148398.1:n.1327+405_1327+535del | ||
| NR_148399.1:n.1714+405_1714+535del | ||
| NR_148400.1:n.1313+405_1313+535del | ||
| XM_005272162.3:c.141+405_141+535del | XP_005272219.1:n.141+405_141+535del | |
| XM_006716932.2:c.987+405_987+535del | XP_006716995.1:n.987+405_987+535del | |
| XM_011518140.2:c.1191+405_1191+535del | XP_011516442.1:n.1191+405_1191+535del | |
| XM_011518141.2:c.1125+405_1125+535del | XP_011516443.1:n.1125+405_1125+535del | |
| XM_011518142.2:c.1029+405_1029+535del | XP_011516444.1:n.1029+405_1029+535del | |
| XM_011518143.2:c.1023+405_1023+535del | XP_011516445.1:n.1023+405_1023+535del | |
| XM_011518145.2:c.882+405_882+535del | XP_011516447.1:n.882+405_882+535del | |
| XM_017014205.2:c.141+405_141+535del | XP_016869694.1:n.141+405_141+535del | |
| XM_024447380.1:c.141+405_141+535del | XP_024303148.1:n.141+405_141+535del | |
| XM_024447381.1:c.447+405_447+535del | XP_024303149.1:n.447+405_447+535del | |
| XM_024447382.1:c.141+405_141+535del | XP_024303150.1:n.141+405_141+535del | |
| XR_001746160.2:n.1442+405_1442+535del | ||
| XR_001746162.2:n.1508+405_1508+535del | ||
| XR_001746164.1:n.1225+405_1225+535del | ||
| XR_001746166.2:n.1659+405_1659+535del | ||
| NM_001077365.2:c.1272+405_1272+535del MANE Select | NP_001070833.1:n.1272+405_1272+535del | |
| NM_001077366.2:c.1110+405_1110+535del | NP_001070834.1:n.1110+405_1110+535del | |
| NM_001136113.2:c.1272+405_1272+535del | NP_001129585.1:n.1272+405_1272+535del | |
| NM_001136114.2:c.921+405_921+535del | NP_001129586.1:n.921+405_921+535del | |
| NM_001353193.2:c.1338+405_1338+535del | NP_001340122.2:n.1338+405_1338+535del | |
| NM_001353194.2:c.1110+405_1110+535del | NP_001340123.1:n.1110+405_1110+535del | |
| NM_001353195.2:c.921+405_921+535del | NP_001340124.1:n.921+405_921+535del | |
| NM_001353196.2:c.1182+405_1182+535del | NP_001340125.1:n.1182+405_1182+535del | |
| NM_001353197.2:c.1176+405_1176+535del | NP_001340126.2:n.1176+405_1176+535del | |
| NM_001353198.2:c.1176+405_1176+535del | NP_001340127.2:n.1176+405_1176+535del | |
| NM_001353199.2:c.987+405_987+535del | NP_001340128.2:n.987+405_987+535del | |
| NM_001353200.2:c.816+405_816+535del | NP_001340129.1:n.816+405_816+535del | |
| NM_001374689.1:c.1260+405_1260+535del | NP_001361618.1:n.1260+405_1260+535del | |
| NM_001374690.1:c.1272+405_1272+535del | NP_001361619.1:n.1272+405_1272+535del | |
| NM_001374691.1:c.921+405_921+535del | NP_001361620.1:n.921+405_921+535del | |
| NM_001374692.1:c.921+405_921+535del | NP_001361621.1:n.921+405_921+535del | |
| NM_001374693.1:c.921+405_921+535del | NP_001361622.1:n.921+405_921+535del | |
| NM_001374695.1:c.882+405_882+535del | NP_001361624.1:n.882+405_882+535del | |
| NM_007171.4:c.1338+405_1338+535del | NP_009102.4:n.1338+405_1338+535del | |
| NR_148391.2:n.1306+405_1306+535del | ||
| NR_148392.2:n.1524+405_1524+535del | ||
| NR_148393.2:n.1306+405_1306+535del | ||
| NR_148394.2:n.1199+405_1199+535del | ||
| NR_148395.2:n.1458+405_1458+535del | ||
| NR_148396.2:n.1092+405_1092+535del | ||
| NR_148397.2:n.1356+405_1356+535del | ||
| NR_148398.2:n.1311+405_1311+535del | ||
| NR_148399.2:n.1698+405_1698+535del | ||
| NR_148400.2:n.1297+405_1297+535del |