Canonical Allele Identifier: CA2570707815

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432190_229432191dup , CM000663.2:g.229432190_229432191dup	GRCh38
NC_000001.10:g.229567937_229567938dup , CM000663.1:g.229567937_229567938dup	GRCh37
NC_000001.9:g.227634560_227634561dup	NCBI36
NG_006672.1:g.6906_6907dup , LRG_429:g.6906_6907dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.617-6_617-5dup	ENSP00000355644.4:n.617-6_617-5dup
ENST00000684723.1:c.482-6_482-5dup	ENSP00000508084.1:n.482-6_482-5dup
ENST00000366683.3:c.479+216_479+217dup	ENSP00000355644.3:n.479+216_479+217dup
ENST00000366684.7:c.617-6_617-5dup MANE Select	ENSP00000355645.3:n.617-6_617-5dup
NM_001100.3:c.617-6_617-5dup , LRG_429t1:c.617-6_617-5dup	NP_001091.1:n.617-6_617-5dup
NM_001100.4:c.617-6_617-5dup MANE Select	NP_001091.1:n.617-6_617-5dup