Canonical Allele Identifier: CA1926597854
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935366_88935367delinsTC , CM000672.2:g.88935366_88935367delinsTC GRCh38
NC_000010.10:g.90695123_90695124delinsTC , CM000672.1:g.90695123_90695124delinsTC GRCh37
NC_000010.9:g.90685103_90685104delinsTC NCBI36
NG_011541.1:g.61024_61025delinsGA , LRG_781:g.61024_61025delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.991-1_991delinsGA (ACTA2)
ENST00000458159.6:c.991-1_991delinsGA (ACTA2)
ENST00000480297.6:n.2587-1_2587delinsGA (ACTA2)
ENST00000224784.10:c.991-1_991delinsGA (ACTA2)
ENST00000371927.7:c.1254+12930_1254+12931delinsTC (STAMBPL1) ENSP00000360995.3:n.1254+12930_1254+12931delinsTC
ENST00000458208.5:c.991-1_991delinsGA (ACTA2)
NM_001141945.1:c.991-1_991delinsGA , LRG_781t2:c.991-1_991delinsGA (ACTA2)
NM_001613.2:c.991-1_991delinsGA , LRG_781t1:c.991-1_991delinsGA (ACTA2)
NR_125373.1:n.991_992delinsTC (ACTA2-AS1)
XM_011540016.1:c.991-1_991delinsGA (ACTA2)
NM_001141945.2:c.991-1_991delinsGA (ACTA2)
NM_001320855.1:c.991-1_991delinsGA (ACTA2)
NM_001613.3:c.991-1_991delinsGA (ACTA2)
NM_001613.4:c.991-1_991delinsGA (ACTA2)