Canonical Allele Identifier: CA628024149

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1567850520
• gnomAD v2: 17-79826705-T-TGTCCGTCGTCC
• gnomAD v4: 17-81868829-T-TGTCCGTCGTCC
• MyVariant Identifiers: chr17:g.79826712_79826713insGTCCGTCCGTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868837_81868847dup , CM000679.2:g.81868837_81868847dup	GRCh38
NC_000017.10:g.79826713_79826723dup , CM000679.1:g.79826713_79826723dup	GRCh37
NC_000017.9:g.77420002_77420012dup	NCBI36
NG_034210.1:g.7567_7577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*36_*46dup MANE Select	ENSP00000269321.7:n.*36_*46dup
ENST00000269321.11:c.*36_*46dup	ENSP00000269321.7:n.*36_*46dup
ENST00000400721.8:c.*36_*46dup	ENSP00000383556.4:n.*36_*46dup
ENST00000541078.6:c.*36_*46dup	ENSP00000441348.2:n.*36_*46dup
ENST00000579121.5:c.502+149_502+159dup	ENSP00000462960.1:n.502+149_502+159dup
ENST00000580685.5:c.*36_*46dup	ENSP00000464205.1:n.*36_*46dup
ENST00000581876.5:c.*36_*46dup	ENSP00000461956.1:n.*36_*46dup
ENST00000583868.5:c.539_549dup	ENSP00000462209.1:p.Arg184GlyfsTer?
ENST00000584461.5:c.502+149_502+159dup	ENSP00000463939.1:n.502+149_502+159dup
NM_001185077.2:c.*36_*46dup	NP_001172006.1:n.*36_*46dup
NM_001185078.2:c.*36_*46dup	NP_001172007.1:n.*36_*46dup
NM_001301240.1:c.502+149_502+159dup	NP_001288169.1:n.502+149_502+159dup
NM_001301241.1:c.502+149_502+159dup	NP_001288170.1:n.502+149_502+159dup
NM_001301242.1:c.539_549dup	NP_001288171.1:p.Arg184GlyfsTer?
NM_001301243.1:c.*36_*46dup	NP_001288172.1:n.*36_*46dup
NM_004309.5:c.*36_*46dup	NP_004300.1:n.*36_*46dup
NR_125441.1:n.710_720dup
XM_011523574.1:c.*36_*46dup	XP_011521876.1:n.*36_*46dup
NM_004309.6:c.*36_*46dup MANE Select	NP_004300.1:n.*36_*46dup
NM_001185077.3:c.*36_*46dup	NP_001172006.1:n.*36_*46dup
NM_001185078.3:c.*36_*46dup	NP_001172007.1:n.*36_*46dup
NM_001301240.2:c.502+149_502+159dup	NP_001288169.1:n.502+149_502+159dup
NM_001301241.2:c.502+149_502+159dup	NP_001288170.1:n.502+149_502+159dup
NM_001301242.2:c.539_549dup	NP_001288171.1:p.Arg184GlyfsTer?
NM_001301243.2:c.*36_*46dup	NP_001288172.1:n.*36_*46dup
NR_125441.2:n.641_651dup