Canonical Allele Identifier: CA1926598012

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88935434_88935443delinsCAGAGCCTGG , CM000672.2:g.88935434_88935443delinsCAGAGCCTGG	GRCh38
NC_000010.10:g.90695191_90695200delinsCAGAGCCTGG , CM000672.1:g.90695191_90695200delinsCAGAGCCTGG	GRCh37
NC_000010.9:g.90685171_90685180delinsCAGAGCCTGG	NCBI36
NG_011541.1:g.60948_60957delinsCCAGGCTCTG , LRG_781:g.60948_60957delinsCCAGGCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	ENSP00000396730.2:n.991-77_991-68delinsCCAGGCTCTG
ENST00000458159.6:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	ENSP00000398239.2:n.991-77_991-68delinsCCAGGCTCTG
ENST00000480297.6:n.2587-77_2587-68delinsCCAGGCTCTG (ACTA2)
ENST00000224784.10:c.991-77_991-68delinsCCAGGCTCTG (ACTA2) MANE Select	ENSP00000224784.6:n.991-77_991-68delinsCCAGGCTCTG
ENST00000371927.7:c.1254+12998_1254+13007delinsCAGAGCCTGG (STAMBPL1)	ENSP00000360995.3:n.1254+12998_1254+13007delinsCAGAGCCTGG
ENST00000458208.5:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	ENSP00000402373.1:n.991-77_991-68delinsCCAGGCTCTG
NM_001141945.1:c.991-77_991-68delinsCCAGGCTCTG , LRG_781t2:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	NP_001135417.1:n.991-77_991-68delinsCCAGGCTCTG
NM_001613.2:c.991-77_991-68delinsCCAGGCTCTG , LRG_781t1:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	NP_001604.1:n.991-77_991-68delinsCCAGGCTCTG
NR_125373.1:n.1059_1068delinsCAGAGCCTGG (ACTA2-AS1)
XM_011540016.1:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	XP_011538318.1:n.991-77_991-68delinsCCAGGCTCTG
NM_001141945.2:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	NP_001135417.1:n.991-77_991-68delinsCCAGGCTCTG
NM_001320855.1:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	NP_001307784.1:n.991-77_991-68delinsCCAGGCTCTG
NM_001613.3:c.991-77_991-68delinsCCAGGCTCTG (ACTA2)	NP_001604.1:n.991-77_991-68delinsCCAGGCTCTG
NM_001613.4:c.991-77_991-68delinsCCAGGCTCTG (ACTA2) MANE Select	NP_001604.1:n.991-77_991-68delinsCCAGGCTCTG