Canonical Allele Identifier: CA628024123

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1567851008
• gnomAD v2: 17-79826883-C-CG
• gnomAD v4: 17-81869007-C-CG
• MyVariant Identifiers: chr17:g.79826883_79826884insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81869012dup , CM000679.2:g.81869012dup	GRCh38
NC_000017.10:g.79826888dup , CM000679.1:g.79826888dup	GRCh37
NC_000017.9:g.77420177dup	NCBI36
NG_034210.1:g.7399dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.483dup MANE Select	ENSP00000269321.7:p.Val162ArgfsTer?
ENST00000269321.11:c.483dup	ENSP00000269321.7:p.Val162ArgfsTer?
ENST00000400721.8:c.416-65dup	ENSP00000383556.4:n.416-65dup
ENST00000541078.6:c.483dup	ENSP00000441348.2:p.Val162ArgfsTer?
ENST00000579121.5:c.483dup	ENSP00000462960.1:p.Val162ArgfsTer?
ENST00000580033.5:c.*127dup	ENSP00000463530.1:n.*127dup
ENST00000580685.5:c.483dup	ENSP00000464205.1:p.Val162ArgfsTer?
ENST00000581876.5:c.258dup	ENSP00000461956.1:p.Val87ArgfsTer?
ENST00000582984.5:n.685dup
ENST00000583791.1:n.347dup
ENST00000583868.5:c.435+48dup	ENSP00000462209.1:n.435+48dup
ENST00000584461.5:c.483dup	ENSP00000463939.1:p.Val162ArgfsTer?
NM_001185077.2:c.483dup	NP_001172006.1:p.Val162ArgfsTer?
NM_001185078.2:c.416-65dup	NP_001172007.1:n.416-65dup
NM_001301240.1:c.483dup	NP_001288169.1:p.Val162ArgfsTer?
NM_001301241.1:c.483dup	NP_001288170.1:p.Val162ArgfsTer?
NM_001301242.1:c.435+48dup	NP_001288171.1:n.435+48dup
NM_001301243.1:c.618dup	NP_001288172.1:p.Val207ArgfsTer?
NM_004309.5:c.483dup	NP_004300.1:p.Val162ArgfsTer?
NR_125441.1:n.542dup
XM_011523574.1:c.618dup	XP_011521876.1:p.Val207ArgfsTer?
NM_004309.6:c.483dup MANE Select	NP_004300.1:p.Val162ArgfsTer?
NM_001185077.3:c.483dup	NP_001172006.1:p.Val162ArgfsTer?
NM_001185078.3:c.416-65dup	NP_001172007.1:n.416-65dup
NM_001301240.2:c.483dup	NP_001288169.1:p.Val162ArgfsTer?
NM_001301241.2:c.483dup	NP_001288170.1:p.Val162ArgfsTer?
NM_001301242.2:c.435+48dup	NP_001288171.1:n.435+48dup
NM_001301243.2:c.618dup	NP_001288172.1:p.Val207ArgfsTer?
NR_125441.2:n.473dup