Canonical Allele Identifier: CA1926603523

Gene: ACTA2 STAMBPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941512_88941514delinsCAG , CM000672.2:g.88941512_88941514delinsCAG	GRCh38
NC_000010.10:g.90701269_90701271delinsCAG , CM000672.1:g.90701269_90701271delinsCAG	GRCh37
NC_000010.9:g.90691249_90691251delinsCAG	NCBI36
NG_011541.1:g.54877_54879delinsCTG , LRG_781:g.54877_54879delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.455-124_455-122delinsCTG (ACTA2)	ENSP00000396730.2:n.455-124_455-122delinsCTG
ENST00000458159.6:c.455-124_455-122delinsCTG (ACTA2)	ENSP00000398239.2:n.455-124_455-122delinsCTG
ENST00000480297.6:n.521-124_521-122delinsCTG (ACTA2)
ENST00000224784.10:c.455-124_455-122delinsCTG (ACTA2) MANE Select	ENSP00000224784.6:n.455-124_455-122delinsCTG
ENST00000371927.7:c.1254+19076_1254+19078delinsCAG (STAMBPL1)	ENSP00000360995.3:n.1254+19076_1254+19078delinsCAG
ENST00000458208.5:c.455-124_455-122delinsCTG (ACTA2)	ENSP00000402373.1:n.455-124_455-122delinsCTG
ENST00000480297.5:n.495-124_495-122delinsCTG (ACTA2)
NM_001141945.1:c.455-124_455-122delinsCTG , LRG_781t2:c.455-124_455-122delinsCTG (ACTA2)	NP_001135417.1:n.455-124_455-122delinsCTG
NM_001613.2:c.455-124_455-122delinsCTG , LRG_781t1:c.455-124_455-122delinsCTG (ACTA2)	NP_001604.1:n.455-124_455-122delinsCTG
XM_011540016.1:c.455-124_455-122delinsCTG (ACTA2)	XP_011538318.1:n.455-124_455-122delinsCTG
NM_001141945.2:c.455-124_455-122delinsCTG (ACTA2)	NP_001135417.1:n.455-124_455-122delinsCTG
NM_001320855.1:c.455-124_455-122delinsCTG (ACTA2)	NP_001307784.1:n.455-124_455-122delinsCTG
NM_001613.3:c.455-124_455-122delinsCTG (ACTA2)	NP_001604.1:n.455-124_455-122delinsCTG
NM_001613.4:c.455-124_455-122delinsCTG (ACTA2) MANE Select	NP_001604.1:n.455-124_455-122delinsCTG