Canonical Allele Identifier: CA8843157

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 522880
• ClinVar RCV Id: RCV000626070
• dbSNP Id: rs757131763
• ExAC: 17:79826686 T / TG
• gnomAD v2: 17-79826686-T-TG
• gnomAD v3: 17-81868810-T-TG
• gnomAD v4: 17-81868810-T-TG
• MyVariant Identifiers: chr17:g.79826687dup (hg19) ; chr17:g.79826687_79826688insG (hg19) ; chr17:g.79826686_79826687insG (hg19) ; chr17:g.81868811dup (hg38) ; chr17:g.81868810_81868811insG (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.*65dup MANE Select	ENSP00000269321.7:n.*65dup
ENST00000269321.11:c.*65dup	ENSP00000269321.7:n.*65dup
ENST00000400721.8:c.*65dup	ENSP00000383556.4:n.*65dup
ENST00000541078.6:c.*65dup	ENSP00000441348.2:n.*65dup
ENST00000579121.5:c.502+178dup	ENSP00000462960.1:n.502+178dup
ENST00000580685.5:c.*65dup	ENSP00000464205.1:n.*65dup
ENST00000581876.5:c.*65dup	ENSP00000461956.1:n.*65dup
ENST00000583868.5:c.568dup	ENSP00000462209.1:p.Gln190ProfsTer11
ENST00000584461.5:c.502+178dup	ENSP00000463939.1:n.502+178dup
NM_001185077.2:c.*65dup	NP_001172006.1:n.*65dup
NM_001185078.2:c.*65dup	NP_001172007.1:n.*65dup
NM_001301240.1:c.502+178dup	NP_001288169.1:n.502+178dup
NM_001301241.1:c.502+178dup	NP_001288170.1:n.502+178dup
NM_001301242.1:c.568dup	NP_001288171.1:p.Gln190ProfsTer11
NM_001301243.1:c.*65dup	NP_001288172.1:n.*65dup
NM_004309.5:c.*65dup	NP_004300.1:n.*65dup
NR_125441.1:n.739dup
XM_011523574.1:c.*65dup	XP_011521876.1:n.*65dup
NM_004309.6:c.*65dup MANE Select	NP_004300.1:n.*65dup
NM_001185077.3:c.*65dup	NP_001172006.1:n.*65dup
NM_001185078.3:c.*65dup	NP_001172007.1:n.*65dup
NM_001301240.2:c.502+178dup	NP_001288169.1:n.502+178dup
NM_001301241.2:c.502+178dup	NP_001288170.1:n.502+178dup
NM_001301242.2:c.568dup	NP_001288171.1:p.Gln190ProfsTer11
NM_001301243.2:c.*65dup	NP_001288172.1:n.*65dup
NR_125441.2:n.670dup