Canonical Allele Identifier: CA2640521834

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868658-C-CGAGACAGGAGACCGAGGAGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868660_81868681dup , CM000679.2:g.81868660_81868681dup	GRCh38
NC_000017.10:g.79826536_79826557dup , CM000679.1:g.79826536_79826557dup	GRCh37
NC_000017.9:g.77419825_77419846dup	NCBI36
NG_034210.1:g.7727_7748dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*196_*217dup MANE Select	ENSP00000269321.7:n.*196_*217dup
ENST00000269321.11:c.*196_*217dup	ENSP00000269321.7:n.*196_*217dup
ENST00000400721.8:c.*196_*217dup	ENSP00000383556.4:n.*196_*217dup
ENST00000541078.6:c.*196_*217dup	ENSP00000441348.2:n.*196_*217dup
ENST00000579121.5:c.503-96_503-75dup	ENSP00000462960.1:n.503-96_503-75dup
ENST00000580685.5:c.*196_*217dup	ENSP00000464205.1:n.*196_*217dup
ENST00000581876.5:c.*196_*217dup	ENSP00000461956.1:n.*196_*217dup
ENST00000583868.5:c.699_720dup	ENSP00000462209.1:p.Val241SerfsTer?
ENST00000584461.5:c.503-96_503-75dup	ENSP00000463939.1:n.503-96_503-75dup
NM_001185077.2:c.*196_*217dup	NP_001172006.1:n.*196_*217dup
NM_001185078.2:c.*196_*217dup	NP_001172007.1:n.*196_*217dup
NM_001301240.1:c.503-96_503-75dup	NP_001288169.1:n.503-96_503-75dup
NM_001301241.1:c.503-96_503-75dup	NP_001288170.1:n.503-96_503-75dup
NM_001301242.1:c.699_720dup	NP_001288171.1:p.Val241SerfsTer?
NM_001301243.1:c.*196_*217dup	NP_001288172.1:n.*196_*217dup
NM_004309.5:c.*196_*217dup	NP_004300.1:n.*196_*217dup
NR_125441.1:n.870_891dup
XM_011523574.1:c.*196_*217dup	XP_011521876.1:n.*196_*217dup
NM_004309.6:c.*196_*217dup MANE Select	NP_004300.1:n.*196_*217dup
NM_001185077.3:c.*196_*217dup	NP_001172006.1:n.*196_*217dup
NM_001185078.3:c.*196_*217dup	NP_001172007.1:n.*196_*217dup
NM_001301240.2:c.503-96_503-75dup	NP_001288169.1:n.503-96_503-75dup
NM_001301241.2:c.503-96_503-75dup	NP_001288170.1:n.503-96_503-75dup
NM_001301242.2:c.699_720dup	NP_001288171.1:p.Val241SerfsTer?
NM_001301243.2:c.*196_*217dup	NP_001288172.1:n.*196_*217dup
NR_125441.2:n.801_822dup