Linked Data
dbSNP Id:
rs749733623
ExAC:
1:202097524 ACTG / A
gnomAD v2:
1-202097524-ACTG-A
gnomAD v3:
1-202128396-ACTG-A
gnomAD v4:
1-202128396-ACTG-A
COSMIC:
COSM902290
MyVariant Identifiers:
chr1:g.202097528_202097530del (hg19)
chr1:g.202097525_202097527del (hg19)
chr1:g.202128400_202128402del (hg38)
chr1:g.202128397_202128399del (hg38)
PubMed:
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128415_202128417del , CM000663.2:g.202128415_202128417del | GRCh38 |
| NC_000001.10:g.202097543_202097545del , CM000663.1:g.202097543_202097545del | GRCh37 |
| NC_000001.9:g.200364166_200364168del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.886_888del | ||
| ENST00000682545.1:c.*311_*313del | ENSP00000508402.1:n.*311_*313del | |
| ENST00000682887.1:c.1706_1708del | ENSP00000506946.1:n.1706_1708del | |
| ENST00000683302.1:c.1236_1238del | ENSP00000507885.1:p.Cys413del | |
| ENST00000683557.1:c.*137_*139del | ENSP00000508029.1:n.*137_*139del | |
| ENST00000367282.6:c.1305_1307del MANE Select | ENSP00000356251.4:p.Cys436del | |
| ENST00000367282.5:c.1305_1307del | ENSP00000356251.4:p.Cys436del | |
| NM_004767.3:c.1305_1307del | NP_004758.3:p.Cys436del | |
| XM_011510158.1:c.744_746del | XP_011508460.1:p.Cys249del | |
| NM_004767.4:c.1305_1307del | NP_004758.3:p.Cys436del | |
| XM_011510158.2:c.744_746del | XP_011508460.1:p.Cys249del | |
| NM_004767.5:c.1305_1307del MANE Select | NP_004758.3:p.Cys436del |