Linked Data
ClinVar Variation Id:
560475
dbSNP Id:
rs544616523
gnomAD v2:
20-3893185-CT-C
gnomAD v3:
20-3912538-CT-C
gnomAD v4:
20-3912538-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912539del , CM000682.2:g.3912539del | GRCh38 |
| NC_000020.10:g.3893186del , CM000682.1:g.3893186del | GRCh37 |
| NC_000020.9:g.3841186del | NCBI36 |
| NG_008131.3:g.28701del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.987del MANE Select | ENSP00000477429.2:p.Arg330ValfsTer10 | |
| ENST00000316562.9:c.1317del | ENSP00000313377.4:p.Arg440ValfsTer10 | |
| ENST00000336066.8:c.*328del | ENSP00000477229.2:n.*328del | |
| ENST00000610179.6:c.987del | ENSP00000477429.2:p.Arg330ValfsTer10 | |
| ENST00000643504.2:c.*617del | ENSP00000495157.2:n.*617del | |
| ENST00000646394.1:c.814del | ||
| ENST00000316562.8:c.1317del | ENSP00000313377.4:p.Arg440ValfsTer10 | |
| ENST00000336066.7:c.*328del | ENSP00000477229.1:n.*328del | |
| ENST00000464452.1:n.552del | ||
| ENST00000495692.5:c.9del | ENSP00000476745.1:p.Arg4ValfsTer10 | |
| ENST00000497424.5:c.444del | ENSP00000417609.1:p.Arg149ValfsTer10 | |
| ENST00000610179.5:c.948del | ENSP00000477429.1:p.Arg317ValfsTer10 | |
| ENST00000621507.1:c.444del | ENSP00000481523.1:p.Arg149ValfsTer10 | |
| NM_024960.4:c.444del | NP_079236.3:p.Arg149ValfsTer10 | |
| NM_153638.2:c.1317del | NP_705902.2:p.Arg440ValfsTer10 | |
| NM_153640.2:c.444del | NP_705904.1:p.Arg149ValfsTer10 | |
| XM_005260835.2:c.702del | XP_005260892.1:p.Arg235ValfsTer10 | |
| XM_005260836.3:c.444del | XP_005260893.3:p.Arg149ValfsTer10 | |
| XM_006723631.1:c.444del | XP_006723694.1:p.Arg149ValfsTer10 | |
| XM_011529364.1:c.1235+1709del | XP_011527666.1:n.1235+1709del | |
| NM_001324191.1:c.444del | NP_001311120.1:p.Arg149ValfsTer10 | |
| NM_001324193.1:c.9del | NP_001311122.1:p.Arg4ValfsTer10 | |
| NM_024960.5:c.444del | NP_079236.3:p.Arg149ValfsTer10 | |
| NM_153638.3:c.1317del | NP_705902.2:p.Arg440ValfsTer10 | |
| NM_153640.3:c.444del | NP_705904.1:p.Arg149ValfsTer10 | |
| NR_136715.1:n.1341del | ||
| XM_005260835.3:c.702del | XP_005260892.1:p.Arg235ValfsTer10 | |
| XM_005260836.4:c.444del | XP_005260893.3:p.Arg149ValfsTer10 | |
| XM_011529364.3:c.1235+1709del | XP_011527666.1:n.1235+1709del | |
| XM_017028077.2:c.9del | XP_016883566.1:p.Arg4ValfsTer10 | |
| XM_017028078.2:c.9del | XP_016883567.1:p.Arg4ValfsTer10 | |
| XM_017028079.2:c.9del | XP_016883568.1:p.Arg4ValfsTer10 | |
| XM_024452002.1:c.9del | XP_024307770.1:p.Arg4ValfsTer10 | |
| XR_002958533.1:n.2105del | ||
| NM_001324191.2:c.444del | NP_001311120.1:p.Arg149ValfsTer10 | |
| NM_001324193.2:c.9del | NP_001311122.1:p.Arg4ValfsTer10 | |
| NM_024960.6:c.444del | NP_079236.3:p.Arg149ValfsTer10 | |
| NR_136715.2:n.888del | ||
| NM_001386393.1:c.987del MANE Select | NP_001373322.1:p.Arg330ValfsTer10 | |
| NM_153638.4:c.1317del | NP_705902.2:p.Arg440ValfsTer10 | |
| NM_153640.4:c.444del | NP_705904.1:p.Arg149ValfsTer10 |