Canonical Allele Identifier: CA1226125557

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431920_229431925delinsGAGCGT , CM000663.2:g.229431920_229431925delinsGAGCGT	GRCh38
NC_000001.10:g.229567667_229567672delinsGAGCGT , CM000663.1:g.229567667_229567672delinsGAGCGT	GRCh37
NC_000001.9:g.227634290_227634295delinsGAGCGT	NCBI36
NG_006672.1:g.7172_7177delinsACGCTC , LRG_429:g.7172_7177delinsACGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.809-23_809-18delinsACGCTC	ENSP00000355644.4:n.809-23_809-18delinsACGCTC
ENST00000684723.1:c.674-23_674-18delinsACGCTC	ENSP00000508084.1:n.674-23_674-18delinsACGCTC
ENST00000366683.3:c.480-63_480-58delinsACGCTC	ENSP00000355644.3:n.480-63_480-58delinsACGCTC
ENST00000366684.7:c.809-23_809-18delinsACGCTC MANE Select	ENSP00000355645.3:n.809-23_809-18delinsACGCTC
NM_001100.3:c.809-23_809-18delinsACGCTC , LRG_429t1:c.809-23_809-18delinsACGCTC	NP_001091.1:n.809-23_809-18delinsACGCTC
NM_001100.4:c.809-23_809-18delinsACGCTC MANE Select	NP_001091.1:n.809-23_809-18delinsACGCTC