Canonical Allele Identifier: CA1926602870

Gene: ACTA2 STAMBPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941030_88941031delinsCT , CM000672.2:g.88941030_88941031delinsCT	GRCh38
NC_000010.10:g.90700787_90700788delinsCT , CM000672.1:g.90700787_90700788delinsCT	GRCh37
NC_000010.9:g.90690767_90690768delinsCT	NCBI36
NG_011541.1:g.55360_55361delinsAG , LRG_781:g.55360_55361delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.616+198_616+199delinsAG (ACTA2)	ENSP00000396730.2:n.616+198_616+199delinsAG
ENST00000458159.6:c.616+198_616+199delinsAG (ACTA2)	ENSP00000398239.2:n.616+198_616+199delinsAG
ENST00000480297.6:n.880_881delinsAG (ACTA2)
ENST00000224784.10:c.616+198_616+199delinsAG (ACTA2) MANE Select	ENSP00000224784.6:n.616+198_616+199delinsAG
ENST00000371927.7:c.1254+18594_1254+18595delinsCT (STAMBPL1)	ENSP00000360995.3:n.1254+18594_1254+18595delinsCT
ENST00000458208.5:c.616+198_616+199delinsAG (ACTA2)	ENSP00000402373.1:n.616+198_616+199delinsAG
ENST00000480297.5:n.854_855delinsAG (ACTA2)
NM_001141945.1:c.616+198_616+199delinsAG , LRG_781t2:c.616+198_616+199delinsAG (ACTA2)	NP_001135417.1:n.616+198_616+199delinsAG
NM_001613.2:c.616+198_616+199delinsAG , LRG_781t1:c.616+198_616+199delinsAG (ACTA2)	NP_001604.1:n.616+198_616+199delinsAG
XM_011540016.1:c.616+198_616+199delinsAG (ACTA2)	XP_011538318.1:n.616+198_616+199delinsAG
NM_001141945.2:c.616+198_616+199delinsAG (ACTA2)	NP_001135417.1:n.616+198_616+199delinsAG
NM_001320855.1:c.616+198_616+199delinsAG (ACTA2)	NP_001307784.1:n.616+198_616+199delinsAG
NM_001613.3:c.616+198_616+199delinsAG (ACTA2)	NP_001604.1:n.616+198_616+199delinsAG
NM_001613.4:c.616+198_616+199delinsAG (ACTA2) MANE Select	NP_001604.1:n.616+198_616+199delinsAG