Canonical Allele Identifier: CA2640522577

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868788-T-TTGGTATGGGGAGGGGAGGGGCTGGGGGGGACACATCCGCCTGTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868789_81868833dup , CM000679.2:g.81868789_81868833dup	GRCh38
NC_000017.10:g.79826665_79826709dup , CM000679.1:g.79826665_79826709dup	GRCh37
NC_000017.9:g.77419954_77419998dup	NCBI36
NG_034210.1:g.7574_7618dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.*43_*87dup MANE Select	ENSP00000269321.7:n.*43_*87dup
ENST00000269321.11:c.*43_*87dup	ENSP00000269321.7:n.*43_*87dup
ENST00000400721.8:c.*43_*87dup	ENSP00000383556.4:n.*43_*87dup
ENST00000541078.6:c.*43_*87dup	ENSP00000441348.2:n.*43_*87dup
ENST00000579121.5:c.502+156_502+200dup	ENSP00000462960.1:n.502+156_502+200dup
ENST00000580685.5:c.*43_*87dup	ENSP00000464205.1:n.*43_*87dup
ENST00000581876.5:c.*43_*87dup	ENSP00000461956.1:n.*43_*87dup
ENST00000583868.5:c.546_590dup	ENSP00000462209.1:p.Gln197_Ser198insAspArgArgMetCysProProGlnP...
ENST00000584461.5:c.502+156_502+200dup	ENSP00000463939.1:n.502+156_502+200dup
NM_001185077.2:c.*43_*87dup	NP_001172006.1:n.*43_*87dup
NM_001185078.2:c.*43_*87dup	NP_001172007.1:n.*43_*87dup
NM_001301240.1:c.502+156_502+200dup	NP_001288169.1:n.502+156_502+200dup
NM_001301241.1:c.502+156_502+200dup	NP_001288170.1:n.502+156_502+200dup
NM_001301242.1:c.546_590dup	NP_001288171.1:p.Gln197_Ser198insAspArgArgMetCysProProGlnProL...
NM_001301243.1:c.*43_*87dup	NP_001288172.1:n.*43_*87dup
NM_004309.5:c.*43_*87dup	NP_004300.1:n.*43_*87dup
NR_125441.1:n.717_761dup
XM_011523574.1:c.*43_*87dup	XP_011521876.1:n.*43_*87dup
NM_004309.6:c.*43_*87dup MANE Select	NP_004300.1:n.*43_*87dup
NM_001185077.3:c.*43_*87dup	NP_001172006.1:n.*43_*87dup
NM_001185078.3:c.*43_*87dup	NP_001172007.1:n.*43_*87dup
NM_001301240.2:c.502+156_502+200dup	NP_001288169.1:n.502+156_502+200dup
NM_001301241.2:c.502+156_502+200dup	NP_001288170.1:n.502+156_502+200dup
NM_001301242.2:c.546_590dup	NP_001288171.1:p.Gln197_Ser198insAspArgArgMetCysProProGlnProL...
NM_001301243.2:c.*43_*87dup	NP_001288172.1:n.*43_*87dup
NR_125441.2:n.648_692dup