Canonical Allele Identifier: CA1148722155

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431921_229431925delinsAGCGT , CM000663.2:g.229431921_229431925delinsAGCGT	GRCh38
NC_000001.10:g.229567668_229567672delinsAGCGT , CM000663.1:g.229567668_229567672delinsAGCGT	GRCh37
NC_000001.9:g.227634291_227634295delinsAGCGT	NCBI36
NG_006672.1:g.7172_7176delinsACGCT , LRG_429:g.7172_7176delinsACGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.809-23_809-19delinsACGCT	ENSP00000355644.4:n.809-23_809-19delinsACGCT
ENST00000684723.1:c.674-23_674-19delinsACGCT	ENSP00000508084.1:n.674-23_674-19delinsACGCT
ENST00000366683.3:c.480-63_480-59delinsACGCT	ENSP00000355644.3:n.480-63_480-59delinsACGCT
ENST00000366684.7:c.809-23_809-19delinsACGCT MANE Select	ENSP00000355645.3:n.809-23_809-19delinsACGCT
NM_001100.3:c.809-23_809-19delinsACGCT , LRG_429t1:c.809-23_809-19delinsACGCT	NP_001091.1:n.809-23_809-19delinsACGCT
NM_001100.4:c.809-23_809-19delinsACGCT MANE Select	NP_001091.1:n.809-23_809-19delinsACGCT