Canonical Allele Identifier: CA732579983

Gene: ACTA1

Linked Data

• dbSNP Id: rs1221052344
• gnomAD v4: 1-229431935-CT-C
• MyVariant Identifiers: chr1:g.229567683del (hg19) ; chr1:g.229431936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431936del , CM000663.2:g.229431936del	GRCh38
NC_000001.10:g.229567683del , CM000663.1:g.229567683del	GRCh37
NC_000001.9:g.227634306del	NCBI36
NG_006672.1:g.7161del , LRG_429:g.7161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.809-34del	ENSP00000355644.4:n.809-34del
ENST00000684723.1:c.674-34del	ENSP00000508084.1:n.674-34del
ENST00000366683.3:c.480-74del	ENSP00000355644.3:n.480-74del
ENST00000366684.7:c.809-34del MANE Select	ENSP00000355645.3:n.809-34del
NM_001100.3:c.809-34del , LRG_429t1:c.809-34del	NP_001091.1:n.809-34del
NM_001100.4:c.809-34del MANE Select	NP_001091.1:n.809-34del