Canonical Allele Identifier: CA1926600536
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88938246_88938248delinsGAA , CM000672.2:g.88938246_88938248delinsGAA GRCh38
NC_000010.10:g.90698003_90698005delinsGAA , CM000672.1:g.90698003_90698005delinsGAA GRCh37
NC_000010.9:g.90687983_90687985delinsGAA NCBI36
NG_011541.1:g.58143_58145delinsTTC , LRG_781:g.58143_58145delinsTTC

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.2:c.809-6_809-4delinsTTC (ACTA2) ENSP00000396730.2:n.809-6_809-4delinsTTC
ENST00000458159.6:c.809-6_809-4delinsTTC (ACTA2) ENSP00000398239.2:n.809-6_809-4delinsTTC
ENST00000480297.6:n.2405-6_2405-4delinsTTC (ACTA2)
ENST00000224784.10:c.809-6_809-4delinsTTC (ACTA2) MANE Select ENSP00000224784.6:n.809-6_809-4delinsTTC
ENST00000371927.7:c.1254+15810_1254+15812delinsGAA (STAMBPL1) ENSP00000360995.3:n.1254+15810_1254+15812...
ENST00000458208.5:c.809-6_809-4delinsTTC (ACTA2) ENSP00000402373.1:n.809-6_809-4delinsTTC
NM_001141945.1:c.809-6_809-4delinsTTC , LRG_781t2:c.809-6_809-4delinsTTC (ACTA2) NP_001135417.1:n.809-6_809-4delinsTTC
NM_001613.2:c.809-6_809-4delinsTTC , LRG_781t1:c.809-6_809-4delinsTTC (ACTA2) NP_001604.1:n.809-6_809-4delinsTTC
NR_125373.1:n.1233_1235delinsGAA (ACTA2-AS1)
XM_011540016.1:c.809-6_809-4delinsTTC (ACTA2) XP_011538318.1:n.809-6_809-4delinsTTC
NM_001141945.2:c.809-6_809-4delinsTTC (ACTA2) NP_001135417.1:n.809-6_809-4delinsTTC
NM_001320855.1:c.809-6_809-4delinsTTC (ACTA2) NP_001307784.1:n.809-6_809-4delinsTTC
NM_001613.3:c.809-6_809-4delinsTTC (ACTA2) NP_001604.1:n.809-6_809-4delinsTTC
NM_001613.4:c.809-6_809-4delinsTTC (ACTA2) MANE Select NP_001604.1:n.809-6_809-4delinsTTC