gnomAD v2:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150671_16150677del , CM000678.2:g.16150671_16150677del | GRCh38 |
| NC_000016.9:g.16244528_16244534del , CM000678.1:g.16244528_16244534del | GRCh37 |
| NC_000016.8:g.16152029_16152035del | NCBI36 |
| NG_007558.2:g.77797_77803del | |
| NG_007558.3:g.77943_77949del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*478_*484del | ENSP00000483331.2:n.*478_*484del | |
| ENST00000205557.12:c.4306_4312del MANE Select | ENSP00000205557.7:p.Thr1436CysfsTer26 | |
| ENST00000640696.1:c.1120_1126del | ENSP00000492197.1:p.Thr374CysfsTer26 | |
| ENST00000205557.11:c.4306_4312del | ENSP00000205557.7:p.Thr1436CysfsTer26 | |
| ENST00000456970.6:c.3931_3937del | ENSP00000405002.2:n.3931_3937del | |
| ENST00000576204.5:n.1169_1175del | ||
| ENST00000622290.4:c.*1515_*1521del | ENSP00000483331.1:n.*1515_*1521del | |
| NM_001171.5:c.4306_4312del | NP_001162.4:p.Thr1436CysfsTer26 | |
| XM_011522479.1:c.4273_4279del | XP_011520781.1:p.Thr1425CysfsTer26 | |
| XM_011522480.1:c.3964_3970del | XP_011520782.1:p.Thr1322CysfsTer26 | |
| XM_011522481.1:c.3964_3970del | XP_011520783.1:p.Thr1322CysfsTer26 | |
| XR_933134.1:n.538+6381_538+6387del | ||
| NM_001351800.1:c.3964_3970del | NP_001338729.1:p.Thr1322CysfsTer26 | |
| NR_147784.1:n.3968_3974del | ||
| XM_011522479.2:c.4273_4279del | XP_011520781.1:p.Thr1425CysfsTer26 | |
| XM_011522481.3:c.3964_3970del | XP_011520783.1:p.Thr1322CysfsTer26 | |
| XM_017023212.1:c.4138_4144del | XP_016878701.1:p.Thr1380CysfsTer26 | |
| XM_024450261.1:c.4342_4348del | XP_024306029.1:p.Thr1448CysfsTer26 | |
| NM_001171.6:c.4306_4312del MANE Select | NP_001162.5:p.Thr1436CysfsTer26 |