Canonical Allele Identifier: CA2650926544

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229431400-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431402del , CM000663.2:g.229431402del	GRCh38
NC_000001.10:g.229567149del , CM000663.1:g.229567149del	GRCh37
NC_000001.9:g.227633772del	NCBI36
NG_006672.1:g.7696del , LRG_429:g.7696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.*98del	ENSP00000355644.4:n.*98del
ENST00000684723.1:c.*98del	ENSP00000508084.1:n.*98del
ENST00000366683.3:c.*98del	ENSP00000355644.3:n.*98del
ENST00000366684.7:c.*98del MANE Select	ENSP00000355645.3:n.*98del
NM_001100.3:c.*98del , LRG_429t1:c.*98del	NP_001091.1:n.*98del
NM_001100.4:c.*98del MANE Select	NP_001091.1:n.*98del