Canonical Allele Identifier: CA8843140

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs764015476
• ExAC: 17:79826643 CACGGAGGGCCTGTCAGCACTTTGGTATGGGGAGGGGA / C
• gnomAD v2: 17-79826643-CACGGAGGGCCTGTCAGCACTTTGGTATGGGGAGGGGA-C
• gnomAD v4: 17-81868767-CACGGAGGGCCTGTCAGCACTTTGGTATGGGGAGGGGA-C
• MyVariant Identifiers: chr17:g.79826644_79826680del (hg19) ; chr17:g.81868768_81868804del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868768_81868804del , CM000679.2:g.81868768_81868804del	GRCh38
NC_000017.10:g.79826644_79826680del , CM000679.1:g.79826644_79826680del	GRCh37
NC_000017.9:g.77419933_77419969del	NCBI36
NG_034210.1:g.7603_7639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*72_*108del MANE Select	ENSP00000269321.7:n.*72_*108del
ENST00000269321.11:c.*72_*108del	ENSP00000269321.7:n.*72_*108del
ENST00000400721.8:c.*72_*108del	ENSP00000383556.4:n.*72_*108del
ENST00000541078.6:c.*72_*108del	ENSP00000441348.2:n.*72_*108del
ENST00000579121.5:c.502+185_503-184del	ENSP00000462960.1:n.502+185_503-184del
ENST00000580685.5:c.*72_*108del	ENSP00000464205.1:n.*72_*108del
ENST00000581876.5:c.*72_*108del	ENSP00000461956.1:n.*72_*108del
ENST00000583868.5:c.575_611del	ENSP00000462209.1:p.Leu192ArgfsTer?
ENST00000584461.5:c.502+185_503-184del	ENSP00000463939.1:n.502+185_503-184del
NM_001185077.2:c.*72_*108del	NP_001172006.1:n.*72_*108del
NM_001185078.2:c.*72_*108del	NP_001172007.1:n.*72_*108del
NM_001301240.1:c.502+185_503-184del	NP_001288169.1:n.502+185_503-184del
NM_001301241.1:c.502+185_503-184del	NP_001288170.1:n.502+185_503-184del
NM_001301242.1:c.575_611del	NP_001288171.1:p.Leu192ArgfsTer?
NM_001301243.1:c.*72_*108del	NP_001288172.1:n.*72_*108del
NM_004309.5:c.*72_*108del	NP_004300.1:n.*72_*108del
NR_125441.1:n.746_782del
XM_011523574.1:c.*72_*108del	XP_011521876.1:n.*72_*108del
NM_004309.6:c.*72_*108del MANE Select	NP_004300.1:n.*72_*108del
NM_001185077.3:c.*72_*108del	NP_001172006.1:n.*72_*108del
NM_001185078.3:c.*72_*108del	NP_001172007.1:n.*72_*108del
NM_001301240.2:c.502+185_503-184del	NP_001288169.1:n.502+185_503-184del
NM_001301241.2:c.502+185_503-184del	NP_001288170.1:n.502+185_503-184del
NM_001301242.2:c.575_611del	NP_001288171.1:p.Leu192ArgfsTer?
NM_001301243.2:c.*72_*108del	NP_001288172.1:n.*72_*108del
NR_125441.2:n.677_713del