Canonical Allele Identifier: CA628024150

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1567850562
• gnomAD v2: 17-79826710-G-GTCGT
• gnomAD v3: 17-81868834-G-GTCGT
• gnomAD v4: 17-81868834-G-GTCGT
• MyVariant Identifiers: chr17:g.79826710_79826711insTCGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868835_81868838dup , CM000679.2:g.81868835_81868838dup	GRCh38
NC_000017.10:g.79826711_79826714dup , CM000679.1:g.79826711_79826714dup	GRCh37
NC_000017.9:g.77420000_77420003dup	NCBI36
NG_034210.1:g.7569_7572dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*38_*41dup MANE Select	ENSP00000269321.7:n.*38_*41dup
ENST00000269321.11:c.*38_*41dup	ENSP00000269321.7:n.*38_*41dup
ENST00000400721.8:c.*38_*41dup	ENSP00000383556.4:n.*38_*41dup
ENST00000541078.6:c.*38_*41dup	ENSP00000441348.2:n.*38_*41dup
ENST00000579121.5:c.502+151_502+154dup	ENSP00000462960.1:n.502+151_502+154dup
ENST00000580685.5:c.*38_*41dup	ENSP00000464205.1:n.*38_*41dup
ENST00000581876.5:c.*38_*41dup	ENSP00000461956.1:n.*38_*41dup
ENST00000583868.5:c.541_544dup	ENSP00000462209.1:p.Thr182AsnfsTer20
ENST00000584461.5:c.502+151_502+154dup	ENSP00000463939.1:n.502+151_502+154dup
NM_001185077.2:c.*38_*41dup	NP_001172006.1:n.*38_*41dup
NM_001185078.2:c.*38_*41dup	NP_001172007.1:n.*38_*41dup
NM_001301240.1:c.502+151_502+154dup	NP_001288169.1:n.502+151_502+154dup
NM_001301241.1:c.502+151_502+154dup	NP_001288170.1:n.502+151_502+154dup
NM_001301242.1:c.541_544dup	NP_001288171.1:p.Thr182AsnfsTer20
NM_001301243.1:c.*38_*41dup	NP_001288172.1:n.*38_*41dup
NM_004309.5:c.*38_*41dup	NP_004300.1:n.*38_*41dup
NR_125441.1:n.712_715dup
XM_011523574.1:c.*38_*41dup	XP_011521876.1:n.*38_*41dup
NM_004309.6:c.*38_*41dup MANE Select	NP_004300.1:n.*38_*41dup
NM_001185077.3:c.*38_*41dup	NP_001172006.1:n.*38_*41dup
NM_001185078.3:c.*38_*41dup	NP_001172007.1:n.*38_*41dup
NM_001301240.2:c.502+151_502+154dup	NP_001288169.1:n.502+151_502+154dup
NM_001301241.2:c.502+151_502+154dup	NP_001288170.1:n.502+151_502+154dup
NM_001301242.2:c.541_544dup	NP_001288171.1:p.Thr182AsnfsTer20
NM_001301243.2:c.*38_*41dup	NP_001288172.1:n.*38_*41dup
NR_125441.2:n.643_646dup