Canonical Allele Identifier: CA2610074455
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Linked Data

gnomAD v4: 10-88947165-C-CAGTTAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88947170_88947171insAAGTTA , CM000672.2:g.88947170_88947171insAAGTTA GRCh38
NC_000010.10:g.90706927_90706928insAAGTTA , CM000672.1:g.90706927_90706928insAAGTTA GRCh37
NC_000010.9:g.90696907_90696908insAAGTTA NCBI36
NG_011541.1:g.49225_49226insTTAACT , LRG_781:g.49225_49226insTTAACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.258+92_258+93insTTAACT (ACTA2) ENSP00000396730.2:n.258+92_258+93insTTAACT
ENST00000458159.6:c.258+92_258+93insTTAACT (ACTA2) ENSP00000398239.2:n.258+92_258+93insTTAACT
ENST00000480297.6:n.324+92_324+93insTTAACT (ACTA2)
ENST00000482085.2:n.1739+92_1739+93insTTAACT (ACTA2)
ENST00000224784.10:c.258+92_258+93insTTAACT (ACTA2) MANE Select ENSP00000224784.6:n.258+92_258+93insTTAACT
ENST00000371927.7:c.1254+24734_1254+24735insAAGTTA (STAMBPL1) ENSP00000360995.3:n.1254+24734_1254+24735insAAGTTA
ENST00000415557.1:c.258+92_258+93insTTAACT (ACTA2) ENSP00000396730.1:n.258+92_258+93insTTAACT
ENST00000458159.5:c.258+92_258+93insTTAACT (ACTA2) ENSP00000398239.1:n.258+92_258+93insTTAACT
ENST00000458208.5:c.258+92_258+93insTTAACT (ACTA2) ENSP00000402373.1:n.258+92_258+93insTTAACT
ENST00000480297.5:n.298+92_298+93insTTAACT (ACTA2)
ENST00000488967.5:n.416_417insTTAACT (ACTA2)
NM_001141945.1:c.258+92_258+93insTTAACT , LRG_781t2:c.258+92_258+93insTTAACT (ACTA2) NP_001135417.1:n.258+92_258+93insTTAACT
NM_001613.2:c.258+92_258+93insTTAACT , LRG_781t1:c.258+92_258+93insTTAACT (ACTA2) NP_001604.1:n.258+92_258+93insTTAACT
XM_011540016.1:c.258+92_258+93insTTAACT (ACTA2) XP_011538318.1:n.258+92_258+93insTTAACT
NM_001141945.2:c.258+92_258+93insTTAACT (ACTA2) NP_001135417.1:n.258+92_258+93insTTAACT
NM_001320855.1:c.258+92_258+93insTTAACT (ACTA2) NP_001307784.1:n.258+92_258+93insTTAACT
NM_001613.3:c.258+92_258+93insTTAACT (ACTA2) NP_001604.1:n.258+92_258+93insTTAACT
NM_001613.4:c.258+92_258+93insTTAACT (ACTA2) MANE Select NP_001604.1:n.258+92_258+93insTTAACT
Search 100 bp 5'
Search 100 bp 3'