gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40410738_40410739del , CM000677.2:g.40410738_40410739del | GRCh38 |
| NC_000015.9:g.40702937_40702938del , CM000677.1:g.40702937_40702938del | GRCh37 |
| NC_000015.8:g.38490229_38490230del | NCBI36 |
| NG_011986.1:g.10252_10253del | |
| NG_011986.2:g.10254_10255del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000479013.7:c.307_308del | ENSP00000417990.3:p.Cys103HisfsTer10 | |
| ENST00000487418.8:c.397_398del MANE Select | ENSP00000418397.3:p.Cys133HisfsTer10 | |
| ENST00000610693.5:c.484_485del | ENSP00000479359.2:p.Cys162HisfsTer10 | |
| ENST00000650656.1:c.316_317del | ENSP00000498731.1:p.Cys106HisfsTer10 | |
| ENST00000651168.1:c.406_407del | ENSP00000499074.1:p.Cys136HisfsTer10 | |
| ENST00000473112.6:c.156_157del | ||
| ENST00000479013.6:c.316_317del | ENSP00000417990.2:p.Cys106HisfsTer10 | |
| ENST00000481262.6:c.3_4del | ||
| ENST00000484250.1:n.20_21del | ||
| ENST00000487418.6:c.406_407del | ENSP00000418397.2:p.Cys136HisfsTer10 | |
| ENST00000558610.5:c.349_350del | ENSP00000453821.1:p.Cys117HisfsTer10 | |
| ENST00000610693.4:c.493_494del | ENSP00000479359.1:p.Cys165HisfsTer10 | |
| NM_001159508.1:c.316_317del | NP_001152980.1:p.Cys106HisfsTer10 | |
| NM_002225.3:c.406_407del | NP_002216.2:p.Cys136HisfsTer10 | |
| XM_005254350.2:c.406_407del | XP_005254407.1:p.Cys136HisfsTer10 | |
| XM_005254356.2:c.406_407del | XP_005254413.1:p.Cys136HisfsTer10 | |
| XM_006720491.2:c.349_350del | XP_006720554.1:p.Cys117HisfsTer10 | |
| XM_006720492.2:c.406_407del | XP_006720555.1:p.Cys136HisfsTer10 | |
| XM_006720493.2:c.406_407del | XP_006720556.1:p.Cys136HisfsTer10 | |
| XM_006720494.2:c.406_407del | XP_006720557.1:p.Cys136HisfsTer10 | |
| XM_006720495.2:c.406_407del | XP_006720558.1:p.Cys136HisfsTer10 | |
| XM_011521523.1:c.406_407del | XP_011519825.1:p.Cys136HisfsTer10 | |
| XM_011521524.1:c.406_407del | XP_011519826.1:p.Cys136HisfsTer10 | |
| XR_243097.3:n.406_407del | ||
| XR_243098.2:n.406_407del | ||
| XR_429453.2:n.507_508del | ||
| NM_001159508.2:c.307_308del | NP_001152980.2:p.Cys103HisfsTer10 | |
| NM_001354597.2:c.349_350del | NP_001341526.1:p.Cys117HisfsTer10 | |
| NM_001354598.2:c.397_398del | NP_001341527.2:p.Cys133HisfsTer10 | |
| NM_001354599.2:c.484_485del | NP_001341528.2:p.Cys162HisfsTer10 | |
| NM_001354600.2:c.484_485del | NP_001341529.2:p.Cys162HisfsTer10 | |
| NM_001354601.2:c.397_398del | NP_001341530.2:p.Cys133HisfsTer10 | |
| NM_002225.4:c.397_398del | NP_002216.3:p.Cys133HisfsTer10 | |
| NR_148925.1:n.807_808del | ||
| XM_006720495.3:c.406_407del | XP_006720558.1:p.Cys136HisfsTer10 | |
| XM_017022149.1:c.493_494del | XP_016877638.1:p.Cys165HisfsTer10 | |
| XM_017022150.1:c.493_494del | XP_016877639.1:p.Cys165HisfsTer10 | |
| XM_017022153.1:c.493_494del | XP_016877642.1:p.Cys165HisfsTer10 | |
| XM_017022154.2:c.436_437del | XP_016877643.1:p.Cys146HisfsTer10 | |
| XM_017022155.2:c.493_494del | XP_016877644.1:p.Cys165HisfsTer10 | |
| XM_017022157.1:c.493_494del | XP_016877646.1:p.Cys165HisfsTer10 | |
| XM_017022158.2:c.493_494del | XP_016877647.1:p.Cys165HisfsTer10 | |
| XR_001751263.1:n.756_757del | ||
| XR_001751264.1:n.797_798del | ||
| NM_001159508.3:c.307_308del | NP_001152980.2:p.Cys103HisfsTer10 | |
| NM_001354597.3:c.349_350del | NP_001341526.1:p.Cys117HisfsTer10 | |
| NM_001354598.3:c.397_398del | NP_001341527.2:p.Cys133HisfsTer10 | |
| NM_001354599.3:c.484_485del | NP_001341528.2:p.Cys162HisfsTer10 | |
| NM_001354600.3:c.484_485del | NP_001341529.2:p.Cys162HisfsTer10 | |
| NM_001354601.3:c.397_398del | NP_001341530.2:p.Cys133HisfsTer10 | |
| NM_002225.5:c.397_398del MANE Select | NP_002216.3:p.Cys133HisfsTer10 | |
| NR_148925.2:n.809_810del |