Canonical Allele Identifier: CA2650926314

Gene: ACTA1

Linked Data

• gnomAD v4: 1-229431116-A-AAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431117_229431120dup , CM000663.2:g.229431117_229431120dup	GRCh38
NC_000001.10:g.229566864_229566867dup , CM000663.1:g.229566864_229566867dup	GRCh37
NC_000001.9:g.227633487_227633490dup	NCBI36
NG_006672.1:g.7977_7980dup , LRG_429:g.7977_7980dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684723.1:c.*379_*382dup	ENSP00000508084.1:n.*379_*382dup