Canonical Allele Identifier: CA2748068666
Gene: ACTA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.229432221del , CM000663.2:g.229432221del GRCh38
NC_000001.10:g.229567968del , CM000663.1:g.229567968del GRCh37
NC_000001.9:g.227634591del NCBI36
NG_006672.1:g.6876del , LRG_429:g.6876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366683.4:c.617-36del ENSP00000355644.4:n.617-36del
ENST00000684723.1:c.482-36del ENSP00000508084.1:n.482-36del
ENST00000366683.3:c.479+186del ENSP00000355644.3:n.479+186del
ENST00000366684.7:c.617-36del MANE Select ENSP00000355645.3:n.617-36del
NM_001100.3:c.617-36del , LRG_429t1:c.617-36del NP_001091.1:n.617-36del
NM_001100.4:c.617-36del MANE Select NP_001091.1:n.617-36del