Canonical Allele Identifier: CA1226125560

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431921_229431937delinsAGCGTGAGCAGAAGCTC , CM000663.2:g.229431921_229431937delinsAGCGTGAGCAGAAGCTC	GRCh38
NC_000001.10:g.229567668_229567684delinsAGCGTGAGCAGAAGCTC , CM000663.1:g.229567668_229567684delinsAGCGTGAGCAGAAGCTC	GRCh37
NC_000001.9:g.227634291_227634307delinsAGCGTGAGCAGAAGCTC	NCBI36
NG_006672.1:g.7160_7176delinsGAGCTTCTGCTCACGCT , LRG_429:g.7160_7176delinsGAGCTTCTGCTCACGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000366683.4:c.809-35_809-19delinsGAGCTTCTGCTCACGCT	ENSP00000355644.4:n.809-35_809-19delinsGAGCTTCTGCTCACGCT
ENST00000684723.1:c.674-35_674-19delinsGAGCTTCTGCTCACGCT	ENSP00000508084.1:n.674-35_674-19delinsGAGCTTCTGCTCACGCT
ENST00000366683.3:c.480-75_480-59delinsGAGCTTCTGCTCACGCT	ENSP00000355644.3:n.480-75_480-59delinsGAGCTTCTGCTCACGCT
ENST00000366684.7:c.809-35_809-19delinsGAGCTTCTGCTCACGCT MANE Select	ENSP00000355645.3:n.809-35_809-19delinsGAGCTTCTGCTCACGCT
NM_001100.3:c.809-35_809-19delinsGAGCTTCTGCTCACGCT , LRG_429t1:c.809-35_809-19delinsGAGCTTCTGCTCACGCT	NP_001091.1:n.809-35_809-19delinsGAGCTTCTGCTCACGCT
NM_001100.4:c.809-35_809-19delinsGAGCTTCTGCTCACGCT MANE Select	NP_001091.1:n.809-35_809-19delinsGAGCTTCTGCTCACGCT