Canonical Allele Identifier: CA628024137

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1331993626
• gnomAD v2: 17-79826670-T-TGGGGA
• gnomAD v4: 17-81868794-T-TGGGGA
• MyVariant Identifiers: chr17:g.79826675_79826676insGGGGA (hg19) ; chr17:g.79826670_79826671insGGGGA (hg19) ; chr17:g.81868794_81868795insGGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868804_81868808dup , CM000679.2:g.81868804_81868808dup	GRCh38
NC_000017.10:g.79826680_79826684dup , CM000679.1:g.79826680_79826684dup	GRCh37
NC_000017.9:g.77419969_77419973dup	NCBI36
NG_034210.1:g.7608_7612dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*77_*81dup MANE Select	ENSP00000269321.7:n.*77_*81dup
ENST00000269321.11:c.*77_*81dup	ENSP00000269321.7:n.*77_*81dup
ENST00000400721.8:c.*77_*81dup	ENSP00000383556.4:n.*77_*81dup
ENST00000541078.6:c.*77_*81dup	ENSP00000441348.2:n.*77_*81dup
ENST00000579121.5:c.502+190_502+194dup	ENSP00000462960.1:n.502+190_502+194dup
ENST00000580685.5:c.*77_*81dup	ENSP00000464205.1:n.*77_*81dup
ENST00000581876.5:c.*77_*81dup	ENSP00000461956.1:n.*77_*81dup
ENST00000583868.5:c.580_584dup	ENSP00000462209.1:p.Tyr196ProfsTer?
ENST00000584461.5:c.502+190_502+194dup	ENSP00000463939.1:n.502+190_502+194dup
NM_001185077.2:c.*77_*81dup	NP_001172006.1:n.*77_*81dup
NM_001185078.2:c.*77_*81dup	NP_001172007.1:n.*77_*81dup
NM_001301240.1:c.502+190_502+194dup	NP_001288169.1:n.502+190_502+194dup
NM_001301241.1:c.502+190_502+194dup	NP_001288170.1:n.502+190_502+194dup
NM_001301242.1:c.580_584dup	NP_001288171.1:p.Tyr196ProfsTer?
NM_001301243.1:c.*77_*81dup	NP_001288172.1:n.*77_*81dup
NM_004309.5:c.*77_*81dup	NP_004300.1:n.*77_*81dup
NR_125441.1:n.751_755dup
XM_011523574.1:c.*77_*81dup	XP_011521876.1:n.*77_*81dup
NM_004309.6:c.*77_*81dup MANE Select	NP_004300.1:n.*77_*81dup
NM_001185077.3:c.*77_*81dup	NP_001172006.1:n.*77_*81dup
NM_001185078.3:c.*77_*81dup	NP_001172007.1:n.*77_*81dup
NM_001301240.2:c.502+190_502+194dup	NP_001288169.1:n.502+190_502+194dup
NM_001301241.2:c.502+190_502+194dup	NP_001288170.1:n.502+190_502+194dup
NM_001301242.2:c.580_584dup	NP_001288171.1:p.Tyr196ProfsTer?
NM_001301243.2:c.*77_*81dup	NP_001288172.1:n.*77_*81dup
NR_125441.2:n.682_686dup