gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001255 (NFE)
Exomes Max Group AF
0.00001249 (NFE)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88077794del , CM000674.2:g.88077794del | GRCh38 |
| NC_000012.11:g.88471571del , CM000674.1:g.88471571del | GRCh37 |
| NC_000012.10:g.86995702del | NCBI36 |
| NG_008417.1:g.69427del | |
| NG_008417.2:g.69427del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.5493del | ENSP00000308021.8:p.Ala1832ProfsTer19 | |
| ENST00000547691.8:c.2777del | ||
| ENST00000552810.6:c.5493del MANE Select | ENSP00000448012.1:p.Ala1832ProfsTer19 | |
| ENST00000672414.2:c.*3664del | ENSP00000500729.1:n.*3664del | |
| ENST00000672647.1:n.3853del | ||
| ENST00000673058.2:c.5493del | ENSP00000500665.2:p.Ala1832ProfsTer19 | |
| ENST00000674971.1:c.5493del | ENSP00000502194.1:p.Ala1832ProfsTer19 | |
| ENST00000675230.1:c.5472del | ENSP00000502503.1:p.Ala1825ProfsTer19 | |
| ENST00000675408.1:c.5493del | ENSP00000502298.1:p.Ala1832ProfsTer19 | |
| ENST00000675476.1:c.6354del | ENSP00000502161.1:p.Ala2119ProfsTer19 | |
| ENST00000675628.1:n.5720del | ||
| ENST00000675794.1:c.*3664del | ENSP00000502841.1:n.*3664del | |
| ENST00000675833.1:c.6261del | ENSP00000502559.1:p.Ala2088ProfsTer19 | |
| ENST00000675894.1:n.1798del | ||
| ENST00000676074.1:c.5493del | ENSP00000502079.1:p.Ala1832ProfsTer19 | |
| ENST00000676181.1:n.4421del | ||
| ENST00000676363.1:n.11219del | ||
| ENST00000676448.1:c.*3406del | ENSP00000501987.1:n.*3406del | |
| ENST00000309041.11:c.5499del | ENSP00000308021.7:p.Ala1834ProfsTer19 | |
| ENST00000547691.6:c.2673del | ENSP00000446905.1:p.Ala892ProfsTer19 | |
| ENST00000552810.5:c.5493del | ENSP00000448012.1:p.Ala1832ProfsTer19 | |
| NM_025114.3:c.5493del | NP_079390.3:p.Ala1832ProfsTer19 | |
| XM_011538756.1:c.6354del | XP_011537058.1:p.Ala2119ProfsTer19 | |
| XM_011538757.1:c.6354del | XP_011537059.1:p.Ala2119ProfsTer19 | |
| XM_011538758.1:c.6354del | XP_011537060.1:p.Ala2119ProfsTer19 | |
| XM_011538759.1:c.6354del | XP_011537061.1:p.Ala2119ProfsTer19 | |
| XM_011538760.1:c.6354del | XP_011537062.1:p.Ala2119ProfsTer19 | |
| XM_011538761.1:c.6354del | XP_011537063.1:p.Ala2119ProfsTer19 | |
| XM_011538762.1:c.5586del | XP_011537064.1:p.Ala1863ProfsTer19 | |
| XM_011538763.1:c.5493del | XP_011537065.1:p.Ala1832ProfsTer19 | |
| XM_011538764.1:c.6354del | XP_011537066.1:p.Ala2119ProfsTer19 | |
| XM_011538765.1:c.6354del | XP_011537067.1:p.Ala2119ProfsTer19 | |
| XM_011538766.1:c.4815del | XP_011537068.1:p.Ala1606ProfsTer19 | |
| XR_945163.1:n.968-4519del | ||
| XM_011538756.3:c.6354del | XP_011537058.1:p.Ala2119ProfsTer19 | |
| XM_011538757.3:c.6354del | XP_011537059.1:p.Ala2119ProfsTer19 | |
| XM_011538758.3:c.6354del | XP_011537060.1:p.Ala2119ProfsTer19 | |
| XM_011538759.2:c.6354del | XP_011537061.1:p.Ala2119ProfsTer19 | |
| XM_011538760.2:c.6354del | XP_011537062.1:p.Ala2119ProfsTer19 | |
| XM_011538761.2:c.6354del | XP_011537063.1:p.Ala2119ProfsTer19 | |
| XM_011538762.3:c.5586del | XP_011537064.1:p.Ala1863ProfsTer19 | |
| XM_011538763.3:c.5493del | XP_011537065.1:p.Ala1832ProfsTer19 | |
| XM_011538764.3:c.6354del | XP_011537066.1:p.Ala2119ProfsTer19 | |
| XM_011538765.3:c.6354del | XP_011537067.1:p.Ala2119ProfsTer19 | |
| XM_011538766.3:c.4815del | XP_011537068.1:p.Ala1606ProfsTer19 | |
| XM_017019980.2:c.6354del | XP_016875469.1:p.Ala2119ProfsTer19 | |
| XM_017019981.2:c.6354del | XP_016875470.1:p.Ala2119ProfsTer19 | |
| XM_017019982.1:c.6354del | XP_016875471.1:p.Ala2119ProfsTer19 | |
| XM_017019983.2:c.5472del | XP_016875472.1:p.Ala1825ProfsTer19 | |
| XR_001748869.1:n.6698del | ||
| XR_001748870.2:n.6698del | ||
| NM_025114.4:c.5493del MANE Select | NP_079390.3:p.Ala1832ProfsTer19 |