Canonical Allele Identifier: CA8843158

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs757131763
• ExAC: 17:79826686 TG / T
• gnomAD v2: 17-79826686-TG-T
• gnomAD v3: 17-81868810-TG-T
• gnomAD v4: 17-81868810-TG-T
• COSMIC: COSN1202610 ; COSN18740075
• MyVariant Identifiers: chr17:g.79826687del (hg19) ; chr17:g.81868811del (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.*65del MANE Select	ENSP00000269321.7:n.*65del
ENST00000269321.11:c.*65del	ENSP00000269321.7:n.*65del
ENST00000400721.8:c.*65del	ENSP00000383556.4:n.*65del
ENST00000541078.6:c.*65del	ENSP00000441348.2:n.*65del
ENST00000579121.5:c.502+178del	ENSP00000462960.1:n.502+178del
ENST00000580685.5:c.*65del	ENSP00000464205.1:n.*65del
ENST00000581876.5:c.*65del	ENSP00000461956.1:n.*65del
ENST00000583868.5:c.568del	ENSP00000462209.1:p.Gln190SerfsTer?
ENST00000584461.5:c.502+178del	ENSP00000463939.1:n.502+178del
NM_001185077.2:c.*65del	NP_001172006.1:n.*65del
NM_001185078.2:c.*65del	NP_001172007.1:n.*65del
NM_001301240.1:c.502+178del	NP_001288169.1:n.502+178del
NM_001301241.1:c.502+178del	NP_001288170.1:n.502+178del
NM_001301242.1:c.568del	NP_001288171.1:p.Gln190SerfsTer?
NM_001301243.1:c.*65del	NP_001288172.1:n.*65del
NM_004309.5:c.*65del	NP_004300.1:n.*65del
NR_125441.1:n.739del
XM_011523574.1:c.*65del	XP_011521876.1:n.*65del
NM_004309.6:c.*65del MANE Select	NP_004300.1:n.*65del
NM_001185077.3:c.*65del	NP_001172006.1:n.*65del
NM_001185078.3:c.*65del	NP_001172007.1:n.*65del
NM_001301240.2:c.502+178del	NP_001288169.1:n.502+178del
NM_001301241.2:c.502+178del	NP_001288170.1:n.502+178del
NM_001301242.2:c.568del	NP_001288171.1:p.Gln190SerfsTer?
NM_001301243.2:c.*65del	NP_001288172.1:n.*65del
NR_125441.2:n.670del