gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.98427245del , CM000672.2:g.98427245del | GRCh38 |
| NC_000010.10:g.100187002del , CM000672.1:g.100187002del | GRCh37 |
| NC_000010.9:g.100176992del | NCBI36 |
| NG_009646.1:g.24708del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699112.1:c.602del | ENSP00000514137.1:p.Gly201AlafsTer10 | |
| ENST00000699113.1:c.*340del | ENSP00000514138.1:n.*340del | |
| ENST00000699114.1:n.849del | ||
| ENST00000699115.1:c.863del | ENSP00000514139.1:p.Gly288AlafsTer22 | |
| ENST00000699116.1:n.1692del | ||
| ENST00000699117.1:n.1614del | ||
| ENST00000699118.1:c.575del | ENSP00000514140.1:p.Gly192AlafsTer10 | |
| ENST00000699119.1:c.*321del | ENSP00000514141.1:n.*321del | |
| ENST00000699120.1:c.*420del | ENSP00000514142.1:n.*420del | |
| ENST00000699121.1:c.*321del | ENSP00000514143.1:n.*321del | |
| ENST00000699122.1:c.389del | ENSP00000514144.1:p.Gly130AlafsTer10 | |
| ENST00000699123.1:c.*730del | ENSP00000514145.1:n.*730del | |
| ENST00000699124.1:n.1052del | ||
| ENST00000699125.1:c.992del | ENSP00000514146.1:p.Gly331AlafsTer10 | |
| ENST00000699126.1:n.1205del | ||
| ENST00000699127.1:n.1205del | ||
| ENST00000699128.1:c.*101del | ENSP00000514147.1:n.*101del | |
| ENST00000699129.1:c.*101del | ENSP00000514148.1:n.*101del | |
| ENST00000699130.1:n.1106del | ||
| ENST00000699131.1:c.962del | ENSP00000514149.1:p.Gly321AlafsTer22 | |
| ENST00000699132.1:n.3257del | ||
| ENST00000699133.1:c.863del | ENSP00000514150.1:p.Gly288AlafsTer22 | |
| ENST00000699134.1:c.1220del | ENSP00000514151.1:p.Gly407AlafsTer10 | |
| ENST00000699135.1:c.*340del | ENSP00000514152.1:n.*340del | |
| ENST00000699136.1:c.863del | ENSP00000514153.1:p.Gly288AlafsTer10 | |
| ENST00000699137.1:c.575del | ENSP00000514154.1:p.Gly192AlafsTer10 | |
| ENST00000699138.1:c.*420del | ENSP00000514155.1:n.*420del | |
| ENST00000699139.1:c.701del | ENSP00000514156.1:p.Gly234AlafsTer10 | |
| ENST00000699140.1:c.863del | ENSP00000514157.1:p.Gly288AlafsTer10 | |
| ENST00000699141.1:c.*420del | ENSP00000514158.1:n.*420del | |
| ENST00000699142.1:c.962del | ENSP00000514159.1:p.Gly321AlafsTer10 | |
| ENST00000699143.1:c.*321del | ENSP00000514160.1:n.*321del | |
| ENST00000699144.1:c.*420del | ENSP00000514161.1:n.*420del | |
| ENST00000699145.1:c.962del | ENSP00000514162.1:p.Gly321AlafsTer10 | |
| ENST00000699146.1:c.962del | ENSP00000514164.1:p.Gly321AlafsTer10 | |
| ENST00000699147.1:c.*420del | ENSP00000514165.1:n.*420del | |
| ENST00000699149.1:n.1205del | ||
| ENST00000699159.1:c.*321del | ENSP00000514167.1:n.*321del | |
| ENST00000361490.9:c.962del MANE Select | ENSP00000355310.4:p.Gly321AlafsTer10 | |
| ENST00000325103.10:c.962del | ENSP00000326649.6:p.Gly321AlafsTer10 | |
| ENST00000359632.7:c.347del | ENSP00000352652.3:p.Gly116AlafsTer10 | |
| ENST00000361490.8:c.962del | ENSP00000355310.4:p.Gly321AlafsTer10 | |
| ENST00000467246.5:n.1101del | ||
| ENST00000470095.5:n.347del | ||
| ENST00000478087.5:n.508del | ||
| ENST00000498219.5:n.740del | ||
| ENST00000613394.4:c.962del | ENSP00000477926.1:p.Gly321AlafsTer10 | |
| NM_000195.3:c.962del | NP_000186.2:p.Gly321AlafsTer10 | |
| NM_000195.4:c.962del | NP_000186.2:p.Gly321AlafsTer10 | |
| NM_001311345.1:c.-11del | NP_001298274.1:n.-11del | |
| XM_005269755.2:c.962del | XP_005269812.1:p.Gly321AlafsTer10 | |
| XM_005269756.2:c.962del | XP_005269813.1:p.Gly321AlafsTer10 | |
| XM_005269757.3:c.962del | XP_005269814.1:p.Gly321AlafsTer10 | |
| XM_005269758.1:c.863del | XP_005269815.1:p.Gly288AlafsTer10 | |
| XM_005269759.1:c.593del | XP_005269816.1:p.Gly198AlafsTer10 | |
| XM_005269760.3:c.-11del | XP_005269817.1:n.-11del | |
| XM_005269761.1:c.-11del | XP_005269818.1:n.-11del | |
| XM_006717818.1:c.701del | XP_006717881.1:p.Gly234AlafsTer10 | |
| NM_001322476.1:c.962del | NP_001309405.1:p.Gly321AlafsTer10 | |
| NM_001322477.1:c.962del | NP_001309406.1:p.Gly321AlafsTer10 | |
| NM_001322478.1:c.863del | NP_001309407.1:p.Gly288AlafsTer10 | |
| NM_001322479.1:c.863del | NP_001309408.1:p.Gly288AlafsTer10 | |
| NM_001322480.1:c.701del | NP_001309409.1:p.Gly234AlafsTer10 | |
| NM_001322481.1:c.701del | NP_001309410.1:p.Gly234AlafsTer10 | |
| NM_001322482.1:c.602del | NP_001309411.1:p.Gly201AlafsTer10 | |
| NM_001322483.1:c.593del | NP_001309412.1:p.Gly198AlafsTer10 | |
| NM_001322484.1:c.593del | NP_001309413.1:p.Gly198AlafsTer10 | |
| NM_001322485.1:c.494del | NP_001309414.1:p.Gly165AlafsTer10 | |
| NM_001322487.1:c.-11del | NP_001309416.1:n.-11del | |
| NM_001322489.1:c.-11del | NP_001309418.1:n.-11del | |
| XM_005269757.4:c.962del | XP_005269814.1:p.Gly321AlafsTer10 | |
| XM_017016170.1:c.602del | XP_016871659.1:p.Gly201AlafsTer10 | |
| XM_017016171.2:c.494del | XP_016871660.1:p.Gly165AlafsTer10 | |
| XM_017016172.2:c.-11del | XP_016871661.1:n.-11del | |
| XM_024447971.1:c.992del | XP_024303739.1:p.Gly331AlafsTer10 | |
| XM_024447972.1:c.-11del | XP_024303740.1:n.-11del | |
| XR_001747098.1:n.1231del | ||
| XR_001747099.2:n.1231del | ||
| XR_001747100.2:n.1231del | ||
| XR_001747101.2:n.1132del | ||
| NM_000195.5:c.962del MANE Select | NP_000186.2:p.Gly321AlafsTer10 | |
| NM_001311345.2:c.-11del | NP_001298274.1:n.-11del | |
| NM_001322476.2:c.962del | NP_001309405.1:p.Gly321AlafsTer10 | |
| NM_001322477.2:c.962del | NP_001309406.1:p.Gly321AlafsTer10 | |
| NM_001322478.2:c.863del | NP_001309407.1:p.Gly288AlafsTer10 | |
| NM_001322479.2:c.863del | NP_001309408.1:p.Gly288AlafsTer10 | |
| NM_001322480.2:c.701del | NP_001309409.1:p.Gly234AlafsTer10 | |
| NM_001322481.2:c.701del | NP_001309410.1:p.Gly234AlafsTer10 | |
| NM_001322482.2:c.602del | NP_001309411.1:p.Gly201AlafsTer10 | |
| NM_001322483.2:c.593del | NP_001309412.1:p.Gly198AlafsTer10 | |
| NM_001322484.2:c.593del | NP_001309413.1:p.Gly198AlafsTer10 | |
| NM_001322485.2:c.494del | NP_001309414.1:p.Gly165AlafsTer10 | |
| NM_001322487.2:c.-11del | NP_001309416.1:n.-11del | |
| NM_001322489.2:c.-11del | NP_001309418.1:n.-11del |