Linked Data
ClinVar Variation Id:
402585
ClinVar RCV Id:
RCV000454784
dbSNP Id:
rs11467497
ExAC:
20:126155 GCAAA / G
gnomAD v2:
20-126155-GCAAA-G
gnomAD v3:
20-145514-GCAAA-G
gnomAD v4:
20-145514-GCAAA-G
COSMIC:
COSM4593567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.145519_145522del , CM000682.2:g.145519_145522del | GRCh38 |
| NC_000020.10:g.126160_126163del , CM000682.1:g.126160_126163del | GRCh37 |
| NC_000020.9:g.74160_74163del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382398.4:c.163_166del MANE Select | ENSP00000371835.3:p.Gln55GlyfsTer28 | |
| ENST00000382398.3:c.163_166del | ENSP00000371835.3:p.Gln55GlyfsTer28 | |
| ENST00000542572.1:n.127+31_127+34del | ||
| NM_030931.3:c.163_166del | NP_112193.1:p.Gln55GlyfsTer28 | |
| NM_030931.4:c.163_166del MANE Select | NP_112193.1:p.Gln55GlyfsTer28 |