Linked Data
ClinVar Variation Id:
225457
ClinVar RCV Id:
RCV000490313
dbSNP Id:
rs762951570
ExAC:
8:55540637 TG / T
gnomAD:
8:55540637 TG / T
PubMed:
PMID:10391211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628078del , CM000670.2:g.54628078del | GRCh38 |
| NC_000008.10:g.55540638del , CM000670.1:g.55540638del | GRCh37 |
| NC_000008.9:g.55703191del | NCBI36 |
| NG_009840.1:g.17012del | |
| NG_009840.2:g.17012del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220676.2:c.4196del MANE Select | ENSP00000220676.1:p.Cys1399LeufsTer5 | |
| ENST00000636932.1:c.787+5790del | ENSP00000489857.1:p.= | |
| ENST00000637698.1:c.787+5790del | ENSP00000490104.1:p.= | |
| ENST00000220676.1:c.4196del | ENSP00000220676.1:p.Cys1399LeufsTer5 | |
| NM_006269.1:c.4196del | NP_006260.1:p.Cys1399LeufsTer5 | |
| XM_017013721.1:c.4217del | XP_016869210.1:p.Cys1406LeufsTer5 | |
| XM_017013722.1:c.4196del | XP_016869211.1:p.Cys1399LeufsTer5 | |
| NM_001375654.1:c.787+5790del | NP_001362583.1:p.= | |
| NM_006269.2:c.4196del MANE Select | NP_006260.1:p.Cys1399LeufsTer5 |