Canonical Allele Identifier: CA1226125768

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432407_229432425delinsCCGTCGCCGGAGTCCAGCA , CM000663.2:g.229432407_229432425delinsCCGTCGCCGGAGTCCAGCA	GRCh38
NC_000001.10:g.229568154_229568172delinsCCGTCGCCGGAGTCCAGCA , CM000663.1:g.229568154_229568172delinsCCGTCGCCGGAGTCCAGCA	GRCh37
NC_000001.9:g.227634777_227634795delinsCCGTCGCCGGAGTCCAGCA	NCBI36
NG_006672.1:g.6672_6690delinsTGCTGGACTCCGGCGACGG , LRG_429:g.6672_6690delinsTGCTGGACTCCGGCGACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.461_479delinsTGCTGGACTCCGGCGACGG	ENSP00000355644.4:p.Val154=
ENST00000684723.1:c.326_344delinsTGCTGGACTCCGGCGACGG	ENSP00000508084.1:p.Val109=
ENST00000366683.3:c.461_479delinsTGCTGGACTCCGGCGACGG	ENSP00000355644.3:p.Val154=
ENST00000366684.7:c.461_479delinsTGCTGGACTCCGGCGACGG MANE Select	ENSP00000355645.3:p.Val154=
NM_001100.3:c.461_479delinsTGCTGGACTCCGGCGACGG , LRG_429t1:c.461_479delinsTGCTGGACTCCGGCGACGG	NP_001091.1:p.Val154=
NM_001100.4:c.461_479delinsTGCTGGACTCCGGCGACGG MANE Select	NP_001091.1:p.Val154=