Canonical Allele Identifier: CA2962417010

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432250_229432251insCGCCCCTGCACCCCGGGCGGGAGGGCCGGC , CM000663.2:g.229432250_229432251insCGCCCCTGCACCCCGGGCGGGAGGGCCGGC	GRCh38
NC_000001.10:g.229567997_229567998insCGCCCCTGCACCCCGGGCGGGAGGGCCGGC , CM000663.1:g.229567997_229567998insCGCCCCTGCACCCCGGGCGGGAGGGCCGGC	GRCh37
NC_000001.9:g.227634620_227634621insCGCCCCTGCACCCCGGGCGGGAGGGCCGGC	NCBI36
NG_006672.1:g.6846_6847insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG , LRG_429:g.6846_6847insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366683.4:c.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG	ENSP00000355644.4:n.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAG...
ENST00000684723.1:c.481+19_481+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG	ENSP00000508084.1:n.481+19_481+20insGCCGGCCCTCCCGCCCGGGGTGCAG...
ENST00000366683.3:c.479+156_479+157insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG	ENSP00000355644.3:n.479+156_479+157insGCCGGCCCTCCCGCCCGGGGTGC...
ENST00000366684.7:c.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG MANE Select	ENSP00000355645.3:n.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAG...
NM_001100.3:c.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG , LRG_429t1:c.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG	NP_001091.1:n.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG
NM_001100.4:c.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG MANE Select	NP_001091.1:n.616+19_616+20insGCCGGCCCTCCCGCCCGGGGTGCAGGGGCG