Canonical Allele Identifier: CA916422657
Gene: ACTA1 HGNC NCBI

Linked Data

dbSNP Id: rs1571892081

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229431409_229431410insCG , CM000663.2:g.229431409_229431410insCG GRCh38
NC_000001.10:g.229567156_229567157insCG , CM000663.1:g.229567156_229567157insCG GRCh37
NC_000001.9:g.227633779_227633780insCG NCBI36
NG_006672.1:g.7687_7688insCG , LRG_429:g.7687_7688insCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.*89_*90insCG ENSP00000355644.4:n.*89_*90insCG
ENST00000684723.1:c.*89_*90insCG ENSP00000508084.1:n.*89_*90insCG
ENST00000366683.3:c.*89_*90insCG ENSP00000355644.3:n.*89_*90insCG
ENST00000366684.7:c.*89_*90insCG MANE Select ENSP00000355645.3:n.*89_*90insCG
NM_001100.3:c.*89_*90insCG , LRG_429t1:c.*89_*90insCG NP_001091.1:n.*89_*90insCG
NM_001100.4:c.*89_*90insCG MANE Select NP_001091.1:n.*89_*90insCG