Canonical Allele Identifier: CA1226125742
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432327_229432328delinsGA , CM000663.2:g.229432327_229432328delinsGA GRCh38
NC_000001.10:g.229568074_229568075delinsGA , CM000663.1:g.229568074_229568075delinsGA GRCh37
NC_000001.9:g.227634697_227634698delinsGA NCBI36
NG_006672.1:g.6769_6770delinsTC , LRG_429:g.6769_6770delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.558_559delinsTC ENSP00000355644.4:p.Asp186=
ENST00000684723.1:c.423_424delinsTC ENSP00000508084.1:p.Asp141=
ENST00000366683.3:c.479+79_479+80delinsTC ENSP00000355644.3:n.479+79_479+80delinsTC
ENST00000366684.7:c.558_559delinsTC MANE Select ENSP00000355645.3:p.Asp186=
NM_001100.3:c.558_559delinsTC , LRG_429t1:c.558_559delinsTC NP_001091.1:p.Asp186=
NM_001100.4:c.558_559delinsTC MANE Select NP_001091.1:p.Asp186=