Canonical Allele Identifier: CA1926600139

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88937992_88937995delinsGTTC , CM000672.2:g.88937992_88937995delinsGTTC	GRCh38
NC_000010.10:g.90697749_90697752delinsGTTC , CM000672.1:g.90697749_90697752delinsGTTC	GRCh37
NC_000010.9:g.90687729_90687732delinsGTTC	NCBI36
NG_011541.1:g.58396_58399delinsGAAC , LRG_781:g.58396_58399delinsGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.990+66_990+69delinsGAAC (ACTA2)	ENSP00000396730.2:n.990+66_990+69delinsGAAC
ENST00000458159.6:c.990+66_990+69delinsGAAC (ACTA2)	ENSP00000398239.2:n.990+66_990+69delinsGAAC
ENST00000480297.6:n.2586+66_2586+69delinsGAAC (ACTA2)
ENST00000224784.10:c.990+66_990+69delinsGAAC (ACTA2) MANE Select	ENSP00000224784.6:n.990+66_990+69delinsGAAC
ENST00000371927.7:c.1254+15556_1254+15559delinsGTTC (STAMBPL1)	ENSP00000360995.3:n.1254+15556_1254+15559delinsGTTC
ENST00000458208.5:c.990+66_990+69delinsGAAC (ACTA2)	ENSP00000402373.1:n.990+66_990+69delinsGAAC
NM_001141945.1:c.990+66_990+69delinsGAAC , LRG_781t2:c.990+66_990+69delinsGAAC (ACTA2)	NP_001135417.1:n.990+66_990+69delinsGAAC
NM_001613.2:c.990+66_990+69delinsGAAC , LRG_781t1:c.990+66_990+69delinsGAAC (ACTA2)	NP_001604.1:n.990+66_990+69delinsGAAC
NR_125373.1:n.1199-220_1199-217delinsGTTC (ACTA2-AS1)
XM_011540016.1:c.990+66_990+69delinsGAAC (ACTA2)	XP_011538318.1:n.990+66_990+69delinsGAAC
NM_001141945.2:c.990+66_990+69delinsGAAC (ACTA2)	NP_001135417.1:n.990+66_990+69delinsGAAC
NM_001320855.1:c.990+66_990+69delinsGAAC (ACTA2)	NP_001307784.1:n.990+66_990+69delinsGAAC
NM_001613.3:c.990+66_990+69delinsGAAC (ACTA2)	NP_001604.1:n.990+66_990+69delinsGAAC
NM_001613.4:c.990+66_990+69delinsGAAC (ACTA2) MANE Select	NP_001604.1:n.990+66_990+69delinsGAAC