Linked Data
ClinVar Variation Id:
418923
ClinVar RCV Id:
RCV000483889
dbSNP Id:
rs1064793527
gnomAD v2:
7-94055323-CT-C
gnomAD v3:
7-94426011-CT-C
gnomAD v4:
7-94426011-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426012del , CM000669.2:g.94426012del | GRCh38 |
| NC_000007.13:g.94055324del , CM000669.1:g.94055324del | GRCh37 |
| NC_000007.12:g.93893260del | NCBI36 |
| NG_007405.1:g.36452del , LRG_2:g.36452del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.2958del MANE Select | ENSP00000297268.6:p.Val987LeufsTer? | |
| ENST00000297268.10:c.2958del | ENSP00000297268.6:p.Val987LeufsTer? | |
| ENST00000478215.1:n.517del | ||
| ENST00000481570.5:n.2931del | ||
| ENST00000620463.1:c.2952del | ENSP00000477719.1:p.Val985LeufsTer? | |
| NM_000089.3:c.2958del , LRG_2t1:c.2958del | NP_000080.2:p.Val987LeufsTer? | |
| NM_000089.4:c.2958del MANE Select | NP_000080.2:p.Val987LeufsTer? |