Canonical Allele Identifier: CA2640522801

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868810-T-TGGGGGGGGGGGGGGGGTGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868817_81868818insGGGGGGGGGTGGGGGGGGGGGGG , CM000679.2:g.81868817_81868818insGGGGGGGGGTGGGGGGGGGGGGG	GRCh38
NC_000017.10:g.79826693_79826694insGGGGGGGGGTGGGGGGGGGGGGG , CM000679.1:g.79826693_79826694insGGGGGGGGGTGGGGGGGGGGGGG	GRCh37
NC_000017.9:g.77419982_77419983insGGGGGGGGGTGGGGGGGGGGGGG	NCBI36
NG_034210.1:g.7596_7597insCCCCCCACCCCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC MANE Select	ENSP00000269321.7:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
ENST00000269321.11:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000269321.7:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
ENST00000400721.8:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000383556.4:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
ENST00000541078.6:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000441348.2:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
ENST00000579121.5:c.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000462960.1:n.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC...
ENST00000580685.5:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000464205.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
ENST00000581876.5:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000461956.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
ENST00000583868.5:c.568_569insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000462209.1:p.Gln190ProfsTer?
ENST00000584461.5:c.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC	ENSP00000463939.1:n.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC...
NM_001185077.2:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	NP_001172006.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NM_001185078.2:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	NP_001172007.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NM_001301240.1:c.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC	NP_001288169.1:n.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC
NM_001301241.1:c.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC	NP_001288170.1:n.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC
NM_001301242.1:c.568_569insCCCCCCACCCCCCCCCCCCCCCC	NP_001288171.1:p.Gln190ProfsTer?
NM_001301243.1:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	NP_001288172.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NM_004309.5:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	NP_004300.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NR_125441.1:n.739_740insCCCCCCACCCCCCCCCCCCCCCC
XM_011523574.1:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	XP_011521876.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NM_004309.6:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC MANE Select	NP_004300.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NM_001185077.3:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	NP_001172006.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NM_001185078.3:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	NP_001172007.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NM_001301240.2:c.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC	NP_001288169.1:n.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC
NM_001301241.2:c.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC	NP_001288170.1:n.502+178_502+179insCCCCCCACCCCCCCCCCCCCCCC
NM_001301242.2:c.568_569insCCCCCCACCCCCCCCCCCCCCCC	NP_001288171.1:p.Gln190ProfsTer?
NM_001301243.2:c.*65_*66insCCCCCCACCCCCCCCCCCCCCCC	NP_001288172.1:n.*65_*66insCCCCCCACCCCCCCCCCCCCCCC
NR_125441.2:n.670_671insCCCCCCACCCCCCCCCCCCCCCC