Canonical Allele Identifier: CA628024142

Gene: ARHGDIA

Linked Data

• gnomAD v2: 17-79826680-A-AGGGGTTGGGGGGGGGGG
• MyVariant Identifiers: chr17:g.79826680_79826681insGGGGTTGGGGGGGGGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868808_81868809insTTGGGGGGGGGGGGGGG , CM000679.2:g.81868808_81868809insTTGGGGGGGGGGGGGGG	GRCh38
NC_000017.10:g.79826684_79826685insTTGGGGGGGGGGGGGGG , CM000679.1:g.79826684_79826685insTTGGGGGGGGGGGGGGG	GRCh37
NC_000017.9:g.77419973_77419974insTTGGGGGGGGGGGGGGG	NCBI36
NG_034210.1:g.7602_7603insCCCCCCCCCCCAACCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.*71_*72insCCCCCCCCCCCAACCCC MANE Select	ENSP00000269321.7:n.*71_*72insCCCCCCCCCCCAACCCC
ENST00000269321.11:c.*71_*72insCCCCCCCCCCCAACCCC	ENSP00000269321.7:n.*71_*72insCCCCCCCCCCCAACCCC
ENST00000400721.8:c.*71_*72insCCCCCCCCCCCAACCCC	ENSP00000383556.4:n.*71_*72insCCCCCCCCCCCAACCCC
ENST00000541078.6:c.*71_*72insCCCCCCCCCCCAACCCC	ENSP00000441348.2:n.*71_*72insCCCCCCCCCCCAACCCC
ENST00000579121.5:c.502+184_502+185insCCCCCCCCCCCAACCCC	ENSP00000462960.1:n.502+184_502+185insCCCCCCCCCCCAACCCC
ENST00000580685.5:c.*71_*72insCCCCCCCCCCCAACCCC	ENSP00000464205.1:n.*71_*72insCCCCCCCCCCCAACCCC
ENST00000581876.5:c.*71_*72insCCCCCCCCCCCAACCCC	ENSP00000461956.1:n.*71_*72insCCCCCCCCCCCAACCCC
ENST00000583868.5:c.574_575insCCCCCCCCCCCAACCCC	ENSP00000462209.1:p.Leu192ProfsTer?
ENST00000584461.5:c.502+184_502+185insCCCCCCCCCCCAACCCC	ENSP00000463939.1:n.502+184_502+185insCCCCCCCCCCCAACCCC
NM_001185077.2:c.*71_*72insCCCCCCCCCCCAACCCC	NP_001172006.1:n.*71_*72insCCCCCCCCCCCAACCCC
NM_001185078.2:c.*71_*72insCCCCCCCCCCCAACCCC	NP_001172007.1:n.*71_*72insCCCCCCCCCCCAACCCC
NM_001301240.1:c.502+184_502+185insCCCCCCCCCCCAACCCC	NP_001288169.1:n.502+184_502+185insCCCCCCCCCCCAACCCC
NM_001301241.1:c.502+184_502+185insCCCCCCCCCCCAACCCC	NP_001288170.1:n.502+184_502+185insCCCCCCCCCCCAACCCC
NM_001301242.1:c.574_575insCCCCCCCCCCCAACCCC	NP_001288171.1:p.Leu192ProfsTer?
NM_001301243.1:c.*71_*72insCCCCCCCCCCCAACCCC	NP_001288172.1:n.*71_*72insCCCCCCCCCCCAACCCC
NM_004309.5:c.*71_*72insCCCCCCCCCCCAACCCC	NP_004300.1:n.*71_*72insCCCCCCCCCCCAACCCC
NR_125441.1:n.745_746insCCCCCCCCCCCAACCCC
XM_011523574.1:c.*71_*72insCCCCCCCCCCCAACCCC	XP_011521876.1:n.*71_*72insCCCCCCCCCCCAACCCC
NM_004309.6:c.*71_*72insCCCCCCCCCCCAACCCC MANE Select	NP_004300.1:n.*71_*72insCCCCCCCCCCCAACCCC
NM_001185077.3:c.*71_*72insCCCCCCCCCCCAACCCC	NP_001172006.1:n.*71_*72insCCCCCCCCCCCAACCCC
NM_001185078.3:c.*71_*72insCCCCCCCCCCCAACCCC	NP_001172007.1:n.*71_*72insCCCCCCCCCCCAACCCC
NM_001301240.2:c.502+184_502+185insCCCCCCCCCCCAACCCC	NP_001288169.1:n.502+184_502+185insCCCCCCCCCCCAACCCC
NM_001301241.2:c.502+184_502+185insCCCCCCCCCCCAACCCC	NP_001288170.1:n.502+184_502+185insCCCCCCCCCCCAACCCC
NM_001301242.2:c.574_575insCCCCCCCCCCCAACCCC	NP_001288171.1:p.Leu192ProfsTer?
NM_001301243.2:c.*71_*72insCCCCCCCCCCCAACCCC	NP_001288172.1:n.*71_*72insCCCCCCCCCCCAACCCC
NR_125441.2:n.676_677insCCCCCCCCCCCAACCCC