Linked Data
ClinVar Variation Id:
223080
ClinVar RCV Id:
RCV000208696
dbSNP Id:
rs1064792887
gnomAD v4:
22-50527209-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50527211del , CM000684.2:g.50527211del | GRCh38 |
| NC_000022.10:g.50965640del , CM000684.1:g.50965640del | GRCh37 |
| NC_000022.9:g.49312506del | NCBI36 |
| NG_011860.1:g.7876del , LRG_727:g.7876del | |
| NG_016235.1:g.4230del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.720del MANE Select | ENSP00000252029.3:p.Val241SerfsTer22 | |
| ENST00000395680.6:c.720del | ENSP00000379037.1:p.Val241SerfsTer22 | |
| ENST00000395681.6:c.720del | ENSP00000379038.1:p.Val241SerfsTer22 | |
| ENST00000650719.1:c.646+378del | ENSP00000498276.1:n.646+378del | |
| ENST00000651401.1:c.204del | ENSP00000499115.1:p.Val69SerfsTer22 | |
| ENST00000651906.1:n.1143del | ||
| ENST00000652352.1:c.431del | ENSP00000498579.1:n.431del | |
| ENST00000652401.1:c.221del | ||
| ENST00000252029.7:c.720del | ENSP00000252029.3:p.Val241SerfsTer22 | |
| ENST00000395678.7:c.720del | ENSP00000379036.3:p.Val241SerfsTer22 | |
| ENST00000395680.5:c.720del | ENSP00000379037.1:p.Val241SerfsTer22 | |
| ENST00000395681.5:c.720del | ENSP00000379038.1:p.Val241SerfsTer22 | |
| ENST00000425169.1:c.621del | ENSP00000395875.1:p.Val208SerfsTer22 | |
| ENST00000476284.1:n.771+378del | ||
| ENST00000487577.5:n.1007del | ||
| NM_001113755.2:c.720del | NP_001107227.1:p.Val241SerfsTer22 | |
| NM_001113756.2:c.720del | NP_001107228.1:p.Val241SerfsTer22 | |
| NM_001257988.1:c.720del , LRG_727t1:c.720del | NP_001244917.1:p.Val241SerfsTer22 | |
| NM_001257989.1:c.720del , LRG_727t2:c.720del | NP_001244918.1:p.Val241SerfsTer22 | |
| NM_001953.4:c.720del | NP_001944.1:p.Val241SerfsTer22 | |
| NM_001113755.3:c.720del | NP_001107227.1:p.Val241SerfsTer22 | |
| NM_001113756.3:c.720del | NP_001107228.1:p.Val241SerfsTer22 | |
| NM_001953.5:c.720del MANE Select | NP_001944.1:p.Val241SerfsTer22 |