Canonical Allele Identifier: CA1926597545
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935186_88935187delinsGT , CM000672.2:g.88935186_88935187delinsGT GRCh38
NC_000010.10:g.90694943_90694944delinsGT , CM000672.1:g.90694943_90694944delinsGT GRCh37
NC_000010.9:g.90684923_90684924delinsGT NCBI36
NG_011541.1:g.61204_61205delinsAC , LRG_781:g.61204_61205delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.*36_*37delinsAC (ACTA2) ENSP00000396730.2:n.*36_*37delinsAC
ENST00000458159.6:c.*36_*37delinsAC (ACTA2) ENSP00000398239.2:n.*36_*37delinsAC
ENST00000480297.6:n.2766_2767delinsAC (ACTA2)
ENST00000224784.10:c.*36_*37delinsAC (ACTA2) MANE Select ENSP00000224784.6:n.*36_*37delinsAC
ENST00000371927.7:c.1254+12750_1254+12751delinsGT (STAMBPL1) ENSP00000360995.3:n.1254+12750_1254+12751delinsGT
ENST00000458208.5:c.*36_*37delinsAC (ACTA2) ENSP00000402373.1:n.*36_*37delinsAC
NM_001141945.1:c.*36_*37delinsAC , LRG_781t2:c.*36_*37delinsAC (ACTA2) NP_001135417.1:n.*36_*37delinsAC
NM_001613.2:c.*36_*37delinsAC , LRG_781t1:c.*36_*37delinsAC (ACTA2) NP_001604.1:n.*36_*37delinsAC
NR_125373.1:n.811_812delinsGT (ACTA2-AS1)
XM_011540016.1:c.*36_*37delinsAC (ACTA2) XP_011538318.1:n.*36_*37delinsAC
NM_001141945.2:c.*36_*37delinsAC (ACTA2) NP_001135417.1:n.*36_*37delinsAC
NM_001320855.1:c.*36_*37delinsAC (ACTA2) NP_001307784.1:n.*36_*37delinsAC
NM_001613.3:c.*36_*37delinsAC (ACTA2) NP_001604.1:n.*36_*37delinsAC
NM_001613.4:c.*36_*37delinsAC (ACTA2) MANE Select NP_001604.1:n.*36_*37delinsAC