Linked Data
ClinVar Variation Id:
13610
dbSNP Id:
rs587776798
ExAC:
3:87309172 CT / C
gnomAD v2:
3-87309172-CT-C
gnomAD v3:
3-87260022-CT-C
gnomAD v4:
3-87260022-CT-C
PubMed:
PMID:11297581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87260024del , CM000665.2:g.87260024del | GRCh38 |
| NC_000003.11:g.87309174del , CM000665.1:g.87309174del | GRCh37 |
| NC_000003.10:g.87391864del | NCBI36 |
| NG_008225.2:g.21565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.825del | ENSP00000342931.3:p.Glu276AsnfsTer2 | |
| ENST00000350375.7:c.747del MANE Select | ENSP00000263781.2:p.Glu250AsnfsTer2 | |
| ENST00000344265.7:c.825del | ENSP00000342931.3:p.Glu276AsnfsTer2 | |
| ENST00000350375.6:c.747del | ENSP00000263781.2:p.Glu250AsnfsTer2 | |
| ENST00000560656.1:c.521del | ENSP00000452610.1:n.521del | |
| ENST00000561167.5:c.522del | ENSP00000454072.1:p.Glu175AsnfsTer2 | |
| NM_000306.3:c.747del | NP_000297.1:p.Glu250AsnfsTer2 | |
| NM_001122757.2:c.825del | NP_001116229.1:p.Glu276AsnfsTer2 | |
| NM_000306.4:c.747del MANE Select | NP_000297.1:p.Glu250AsnfsTer2 | |
| NM_001122757.3:c.825del | NP_001116229.1:p.Glu276AsnfsTer2 |