Canonical Allele Identifier: CA2962417009

Gene: ACTA1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.229432250_229432251insCGGGA , CM000663.2:g.229432250_229432251insCGGGA	GRCh38
NC_000001.10:g.229567997_229567998insCGGGA , CM000663.1:g.229567997_229567998insCGGGA	GRCh37
NC_000001.9:g.227634620_227634621insCGGGA	NCBI36
NG_006672.1:g.6846_6847insTCCCG , LRG_429:g.6846_6847insTCCCG

Transcript Alleles

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