Canonical Allele Identifier: CA628024079

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1422404073
• gnomAD v2: 17-79826579-TGAG-T
• gnomAD v4: 17-81868703-TGAG-T
• MyVariant Identifiers: chr17:g.79826580_79826582del (hg19) ; chr17:g.81868704_81868706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868708_81868710del , CM000679.2:g.81868708_81868710del	GRCh38
NC_000017.10:g.79826584_79826586del , CM000679.1:g.79826584_79826586del	GRCh37
NC_000017.9:g.77419873_77419875del	NCBI36
NG_034210.1:g.7701_7703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*170_*172del MANE Select	ENSP00000269321.7:n.*170_*172del
ENST00000269321.11:c.*170_*172del	ENSP00000269321.7:n.*170_*172del
ENST00000400721.8:c.*170_*172del	ENSP00000383556.4:n.*170_*172del
ENST00000541078.6:c.*170_*172del	ENSP00000441348.2:n.*170_*172del
ENST00000579121.5:c.503-122_503-120del	ENSP00000462960.1:n.503-122_503-120del
ENST00000580685.5:c.*170_*172del	ENSP00000464205.1:n.*170_*172del
ENST00000581876.5:c.*170_*172del	ENSP00000461956.1:n.*170_*172del
ENST00000583868.5:c.673_675del	ENSP00000462209.1:p.Leu225del
ENST00000584461.5:c.503-122_503-120del	ENSP00000463939.1:n.503-122_503-120del
NM_001185077.2:c.*170_*172del	NP_001172006.1:n.*170_*172del
NM_001185078.2:c.*170_*172del	NP_001172007.1:n.*170_*172del
NM_001301240.1:c.503-122_503-120del	NP_001288169.1:n.503-122_503-120del
NM_001301241.1:c.503-122_503-120del	NP_001288170.1:n.503-122_503-120del
NM_001301242.1:c.673_675del	NP_001288171.1:p.Leu225del
NM_001301243.1:c.*170_*172del	NP_001288172.1:n.*170_*172del
NM_004309.5:c.*170_*172del	NP_004300.1:n.*170_*172del
NR_125441.1:n.844_846del
XM_011523574.1:c.*170_*172del	XP_011521876.1:n.*170_*172del
NM_004309.6:c.*170_*172del MANE Select	NP_004300.1:n.*170_*172del
NM_001185077.3:c.*170_*172del	NP_001172006.1:n.*170_*172del
NM_001185078.3:c.*170_*172del	NP_001172007.1:n.*170_*172del
NM_001301240.2:c.503-122_503-120del	NP_001288169.1:n.503-122_503-120del
NM_001301241.2:c.503-122_503-120del	NP_001288170.1:n.503-122_503-120del
NM_001301242.2:c.673_675del	NP_001288171.1:p.Leu225del
NM_001301243.2:c.*170_*172del	NP_001288172.1:n.*170_*172del
NR_125441.2:n.775_777del