Canonical Allele Identifier: CA1926597893
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935372_88935378delinsAGTCAAG , CM000672.2:g.88935372_88935378delinsAGTCAAG GRCh38
NC_000010.10:g.90695129_90695135delinsAGTCAAG , CM000672.1:g.90695129_90695135delinsAGTCAAG GRCh37
NC_000010.9:g.90685109_90685115delinsAGTCAAG NCBI36
NG_011541.1:g.61013_61019delinsCTTGACT , LRG_781:g.61013_61019delinsCTTGACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.991-12_991-6delinsCTTGACT (ACTA2) ENSP00000396730.2:n.991-12_991-6delinsCTTGACT
ENST00000458159.6:c.991-12_991-6delinsCTTGACT (ACTA2) ENSP00000398239.2:n.991-12_991-6delinsCTTGACT
ENST00000480297.6:n.2587-12_2587-6delinsCTTGACT (ACTA2)
ENST00000224784.10:c.991-12_991-6delinsCTTGACT (ACTA2) MANE Select ENSP00000224784.6:n.991-12_991-6delinsCTTGACT
ENST00000371927.7:c.1254+12936_1254+12942delinsAGTCAAG (STAMBPL1) ENSP00000360995.3:n.1254+12936_1254+12942delinsAGTCAAG
ENST00000458208.5:c.991-12_991-6delinsCTTGACT (ACTA2) ENSP00000402373.1:n.991-12_991-6delinsCTTGACT
NM_001141945.1:c.991-12_991-6delinsCTTGACT , LRG_781t2:c.991-12_991-6delinsCTTGACT (ACTA2) NP_001135417.1:n.991-12_991-6delinsCTTGACT
NM_001613.2:c.991-12_991-6delinsCTTGACT , LRG_781t1:c.991-12_991-6delinsCTTGACT (ACTA2) NP_001604.1:n.991-12_991-6delinsCTTGACT
NR_125373.1:n.997_1003delinsAGTCAAG (ACTA2-AS1)
XM_011540016.1:c.991-12_991-6delinsCTTGACT (ACTA2) XP_011538318.1:n.991-12_991-6delinsCTTGACT
NM_001141945.2:c.991-12_991-6delinsCTTGACT (ACTA2) NP_001135417.1:n.991-12_991-6delinsCTTGACT
NM_001320855.1:c.991-12_991-6delinsCTTGACT (ACTA2) NP_001307784.1:n.991-12_991-6delinsCTTGACT
NM_001613.3:c.991-12_991-6delinsCTTGACT (ACTA2) NP_001604.1:n.991-12_991-6delinsCTTGACT
NM_001613.4:c.991-12_991-6delinsCTTGACT (ACTA2) MANE Select NP_001604.1:n.991-12_991-6delinsCTTGACT