Canonical Allele Identifier: CA1226125212

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229431274_229431277delinsGCTT , CM000663.2:g.229431274_229431277delinsGCTT	GRCh38
NC_000001.10:g.229567021_229567024delinsGCTT , CM000663.1:g.229567021_229567024delinsGCTT	GRCh37
NC_000001.9:g.227633644_227633647delinsGCTT	NCBI36
NG_006672.1:g.7820_7823delinsAAGC , LRG_429:g.7820_7823delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.*222_*225delinsAAGC	ENSP00000355644.4:n.*222_*225delinsAAGC
ENST00000684723.1:c.*222_*225delinsAAGC	ENSP00000508084.1:n.*222_*225delinsAAGC
ENST00000366683.3:c.*222_*225delinsAAGC	ENSP00000355644.3:n.*222_*225delinsAAGC
ENST00000366684.7:c.*222_*225delinsAAGC MANE Select	ENSP00000355645.3:n.*222_*225delinsAAGC
NM_001100.3:c.*222_*225delinsAAGC , LRG_429t1:c.*222_*225delinsAAGC	NP_001091.1:n.*222_*225delinsAAGC
NM_001100.4:c.*222_*225delinsAAGC MANE Select	NP_001091.1:n.*222_*225delinsAAGC