Canonical Allele Identifier: CA8843189

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs780561517
• ExAC: 17:79826752 TCAGTCCTTC / T
• gnomAD v2: 17-79826752-TCAGTCCTTC-T
• MyVariant Identifiers: chr17:g.79826753_79826761del (hg19) ; chr17:g.81868877_81868885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868886_81868894del , CM000679.2:g.81868886_81868894del	GRCh38
NC_000017.10:g.79826762_79826770del , CM000679.1:g.79826762_79826770del	GRCh37
NC_000017.9:g.77420051_77420059del	NCBI36
NG_034210.1:g.7522_7530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.606_614del MANE Select	ENSP00000269321.7:p.Trp202Ter
ENST00000269321.11:c.606_614del	ENSP00000269321.7:p.Trp202Ter
ENST00000400721.8:c.474_482del	ENSP00000383556.4:p.Trp158Ter
ENST00000541078.6:c.606_614del	ENSP00000441348.2:p.Trp202Ter
ENST00000579121.5:c.502+104_502+112del	ENSP00000462960.1:n.502+104_502+112del
ENST00000580685.5:c.606_614del	ENSP00000464205.1:p.Trp202Ter
ENST00000581876.5:c.381_389del	ENSP00000461956.1:p.Trp127Ter
ENST00000582984.5:n.808_816del
ENST00000583868.5:c.494_502del	ENSP00000462209.1:p.Gly165_Thr167del
ENST00000584461.5:c.502+104_502+112del	ENSP00000463939.1:n.502+104_502+112del
NM_001185077.2:c.606_614del	NP_001172006.1:p.Trp202Ter
NM_001185078.2:c.474_482del	NP_001172007.1:p.Trp158Ter
NM_001301240.1:c.502+104_502+112del	NP_001288169.1:n.502+104_502+112del
NM_001301241.1:c.502+104_502+112del	NP_001288170.1:n.502+104_502+112del
NM_001301242.1:c.494_502del	NP_001288171.1:p.Gly165_Thr167del
NM_001301243.1:c.741_749del	NP_001288172.1:p.Trp247Ter
NM_004309.5:c.606_614del	NP_004300.1:p.Trp202Ter
NR_125441.1:n.665_673del
XM_011523574.1:c.741_749del	XP_011521876.1:p.Trp247Ter
NM_004309.6:c.606_614del MANE Select	NP_004300.1:p.Trp202Ter
NM_001185077.3:c.606_614del	NP_001172006.1:p.Trp202Ter
NM_001185078.3:c.474_482del	NP_001172007.1:p.Trp158Ter
NM_001301240.2:c.502+104_502+112del	NP_001288169.1:n.502+104_502+112del
NM_001301241.2:c.502+104_502+112del	NP_001288170.1:n.502+104_502+112del
NM_001301242.2:c.494_502del	NP_001288171.1:p.Gly165_Thr167del
NM_001301243.2:c.741_749del	NP_001288172.1:p.Trp247Ter
NR_125441.2:n.596_604del