Canonical Allele Identifier: CA2610073720

Gene: ACTA2 STAMBPL1

Linked Data

• gnomAD v4: 10-88941536-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941536_88941537insT , CM000672.2:g.88941536_88941537insT	GRCh38
NC_000010.10:g.90701293_90701294insT , CM000672.1:g.90701293_90701294insT	GRCh37
NC_000010.9:g.90691273_90691274insT	NCBI36
NG_011541.1:g.54854_54855insA , LRG_781:g.54854_54855insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.455-147_455-146insA (ACTA2)	ENSP00000396730.2:n.455-147_455-146insA
ENST00000458159.6:c.455-147_455-146insA (ACTA2)	ENSP00000398239.2:n.455-147_455-146insA
ENST00000480297.6:n.521-147_521-146insA (ACTA2)
ENST00000224784.10:c.455-147_455-146insA (ACTA2) MANE Select	ENSP00000224784.6:n.455-147_455-146insA
ENST00000371927.7:c.1254+19100_1254+19101insT (STAMBPL1)	ENSP00000360995.3:n.1254+19100_1254+19101insT
ENST00000458208.5:c.455-147_455-146insA (ACTA2)	ENSP00000402373.1:n.455-147_455-146insA
ENST00000480297.5:n.495-147_495-146insA (ACTA2)
NM_001141945.1:c.455-147_455-146insA , LRG_781t2:c.455-147_455-146insA (ACTA2)	NP_001135417.1:n.455-147_455-146insA
NM_001613.2:c.455-147_455-146insA , LRG_781t1:c.455-147_455-146insA (ACTA2)	NP_001604.1:n.455-147_455-146insA
XM_011540016.1:c.455-147_455-146insA (ACTA2)	XP_011538318.1:n.455-147_455-146insA
NM_001141945.2:c.455-147_455-146insA (ACTA2)	NP_001135417.1:n.455-147_455-146insA
NM_001320855.1:c.455-147_455-146insA (ACTA2)	NP_001307784.1:n.455-147_455-146insA
NM_001613.3:c.455-147_455-146insA (ACTA2)	NP_001604.1:n.455-147_455-146insA
NM_001613.4:c.455-147_455-146insA (ACTA2) MANE Select	NP_001604.1:n.455-147_455-146insA