Canonical Allele Identifier: CA2640522928

Gene: ARHGDIA

Linked Data

• gnomAD v4: 17-81868817-G-GGGGGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868817_81868818insGGGGGGGGC , CM000679.2:g.81868817_81868818insGGGGGGGGC	GRCh38
NC_000017.10:g.79826693_79826694insGGGGGGGGC , CM000679.1:g.79826693_79826694insGGGGGGGGC	GRCh37
NC_000017.9:g.77419982_77419983insGGGGGGGGC	NCBI36
NG_034210.1:g.7589_7590insGCCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*58_*59insGCCCCCCCC MANE Select	ENSP00000269321.7:n.*58_*59insGCCCCCCCC
ENST00000269321.11:c.*58_*59insGCCCCCCCC	ENSP00000269321.7:n.*58_*59insGCCCCCCCC
ENST00000400721.8:c.*58_*59insGCCCCCCCC	ENSP00000383556.4:n.*58_*59insGCCCCCCCC
ENST00000541078.6:c.*58_*59insGCCCCCCCC	ENSP00000441348.2:n.*58_*59insGCCCCCCCC
ENST00000579121.5:c.502+171_502+172insGCCCCCCCC	ENSP00000462960.1:n.502+171_502+172insGCCCCCCCC
ENST00000580685.5:c.*58_*59insGCCCCCCCC	ENSP00000464205.1:n.*58_*59insGCCCCCCCC
ENST00000581876.5:c.*58_*59insGCCCCCCCC	ENSP00000461956.1:n.*58_*59insGCCCCCCCC
ENST00000583868.5:c.561_562insGCCCCCCCC	ENSP00000462209.1:p.Cys187_Pro188insAlaProPro
ENST00000584461.5:c.502+171_502+172insGCCCCCCCC	ENSP00000463939.1:n.502+171_502+172insGCCCCCCCC
NM_001185077.2:c.*58_*59insGCCCCCCCC	NP_001172006.1:n.*58_*59insGCCCCCCCC
NM_001185078.2:c.*58_*59insGCCCCCCCC	NP_001172007.1:n.*58_*59insGCCCCCCCC
NM_001301240.1:c.502+171_502+172insGCCCCCCCC	NP_001288169.1:n.502+171_502+172insGCCCCCCCC
NM_001301241.1:c.502+171_502+172insGCCCCCCCC	NP_001288170.1:n.502+171_502+172insGCCCCCCCC
NM_001301242.1:c.561_562insGCCCCCCCC	NP_001288171.1:p.Cys187_Pro188insAlaProPro
NM_001301243.1:c.*58_*59insGCCCCCCCC	NP_001288172.1:n.*58_*59insGCCCCCCCC
NM_004309.5:c.*58_*59insGCCCCCCCC	NP_004300.1:n.*58_*59insGCCCCCCCC
NR_125441.1:n.732_733insGCCCCCCCC
XM_011523574.1:c.*58_*59insGCCCCCCCC	XP_011521876.1:n.*58_*59insGCCCCCCCC
NM_004309.6:c.*58_*59insGCCCCCCCC MANE Select	NP_004300.1:n.*58_*59insGCCCCCCCC
NM_001185077.3:c.*58_*59insGCCCCCCCC	NP_001172006.1:n.*58_*59insGCCCCCCCC
NM_001185078.3:c.*58_*59insGCCCCCCCC	NP_001172007.1:n.*58_*59insGCCCCCCCC
NM_001301240.2:c.502+171_502+172insGCCCCCCCC	NP_001288169.1:n.502+171_502+172insGCCCCCCCC
NM_001301241.2:c.502+171_502+172insGCCCCCCCC	NP_001288170.1:n.502+171_502+172insGCCCCCCCC
NM_001301242.2:c.561_562insGCCCCCCCC	NP_001288171.1:p.Cys187_Pro188insAlaProPro
NM_001301243.2:c.*58_*59insGCCCCCCCC	NP_001288172.1:n.*58_*59insGCCCCCCCC
NR_125441.2:n.663_664insGCCCCCCCC