Canonical Allele Identifier: CA2573051510
Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1322764
ClinVar RCV Id: RCV001783139
dbSNP Id: rs2102735965
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432392del , CM000663.2:g.229432392del GRCh38
NC_000001.10:g.229568139del , CM000663.1:g.229568139del GRCh37
NC_000001.9:g.227634762del NCBI36
NG_006672.1:g.6705del , LRG_429:g.6705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.494del ENSP00000355644.4:p.Val165GlyfsTer27
ENST00000684723.1:c.359del ENSP00000508084.1:p.Val120GlyfsTer27
ENST00000366683.3:c.479+15del ENSP00000355644.3:n.479+15del
ENST00000366684.7:c.494del MANE Select ENSP00000355645.3:p.Val165GlyfsTer27
NM_001100.3:c.494del , LRG_429t1:c.494del NP_001091.1:p.Val165GlyfsTer27
NM_001100.4:c.494del MANE Select NP_001091.1:p.Val165GlyfsTer27
Search 100 bp 5'
Search 100 bp 3'