Canonical Allele Identifier: CA1926612180

Gene: ACTA2 STAMBPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88947513_88947523delinsTATTGAGTCTC , CM000672.2:g.88947513_88947523delinsTATTGAGTCTC	GRCh38
NC_000010.10:g.90707270_90707280delinsTATTGAGTCTC , CM000672.1:g.90707270_90707280delinsTATTGAGTCTC	GRCh37
NC_000010.9:g.90697250_90697260delinsTATTGAGTCTC	NCBI36
NG_011541.1:g.48868_48878delinsGAGACTCAATA , LRG_781:g.48868_48878delinsGAGACTCAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	ENSP00000396730.2:n.130-137_130-127delinsGAGACTCAATA
ENST00000458159.6:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	ENSP00000398239.2:n.130-137_130-127delinsGAGACTCAATA
ENST00000480297.6:n.196-137_196-127delinsGAGACTCAATA (ACTA2)
ENST00000482085.2:n.1474_1484delinsGAGACTCAATA (ACTA2)
ENST00000224784.10:c.130-137_130-127delinsGAGACTCAATA (ACTA2) MANE Select	ENSP00000224784.6:n.130-137_130-127delinsGAGACTCAATA
ENST00000371927.7:c.1254+25077_1254+25087delinsTATTGAGTCTC (STAMBPL1)	ENSP00000360995.3:n.1254+25077_1254+25087delinsTATTGAGTCTC
ENST00000415557.1:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	ENSP00000396730.1:n.130-137_130-127delinsGAGACTCAATA
ENST00000458159.5:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	ENSP00000398239.1:n.130-137_130-127delinsGAGACTCAATA
ENST00000458208.5:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	ENSP00000402373.1:n.130-137_130-127delinsGAGACTCAATA
ENST00000480297.5:n.170-137_170-127delinsGAGACTCAATA (ACTA2)
ENST00000488967.5:n.196-137_196-127delinsGAGACTCAATA (ACTA2)
NM_001141945.1:c.130-137_130-127delinsGAGACTCAATA , LRG_781t2:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	NP_001135417.1:n.130-137_130-127delinsGAGACTCAATA
NM_001613.2:c.130-137_130-127delinsGAGACTCAATA , LRG_781t1:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	NP_001604.1:n.130-137_130-127delinsGAGACTCAATA
XM_011540016.1:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	XP_011538318.1:n.130-137_130-127delinsGAGACTCAATA
NM_001141945.2:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	NP_001135417.1:n.130-137_130-127delinsGAGACTCAATA
NM_001320855.1:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	NP_001307784.1:n.130-137_130-127delinsGAGACTCAATA
NM_001613.3:c.130-137_130-127delinsGAGACTCAATA (ACTA2)	NP_001604.1:n.130-137_130-127delinsGAGACTCAATA
NM_001613.4:c.130-137_130-127delinsGAGACTCAATA (ACTA2) MANE Select	NP_001604.1:n.130-137_130-127delinsGAGACTCAATA