Canonical Allele Identifier: CA8843181

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs768213538
• ExAC: 17:79826720 CGTCA / C
• gnomAD v2: 17-79826720-CGTCA-C
• gnomAD v3: 17-81868844-CGTCA-C
• gnomAD v4: 17-81868844-CGTCA-C
• MyVariant Identifiers: chr17:g.79826721_79826724del (hg19) ; chr17:g.81868846_81868849del (hg38) ; chr17:g.81868845_81868848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868848_81868851del , CM000679.2:g.81868848_81868851del	GRCh38
NC_000017.10:g.79826724_79826727del , CM000679.1:g.79826724_79826727del	GRCh37
NC_000017.9:g.77420013_77420016del	NCBI36
NG_034210.1:g.7559_7562del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269321.12:c.*28_*31del MANE Select	ENSP00000269321.7:n.*28_*31del
ENST00000269321.11:c.*28_*31del	ENSP00000269321.7:n.*28_*31del
ENST00000400721.8:c.*28_*31del	ENSP00000383556.4:n.*28_*31del
ENST00000541078.6:c.*28_*31del	ENSP00000441348.2:n.*28_*31del
ENST00000579121.5:c.502+141_502+144del	ENSP00000462960.1:n.502+141_502+144del
ENST00000580685.5:c.*28_*31del	ENSP00000464205.1:n.*28_*31del
ENST00000581876.5:c.*28_*31del	ENSP00000461956.1:n.*28_*31del
ENST00000583868.5:c.531_534del	ENSP00000462209.1:p.Thr181ArgfsTer?
ENST00000584461.5:c.502+141_502+144del	ENSP00000463939.1:n.502+141_502+144del
NM_001185077.2:c.*28_*31del	NP_001172006.1:n.*28_*31del
NM_001185078.2:c.*28_*31del	NP_001172007.1:n.*28_*31del
NM_001301240.1:c.502+141_502+144del	NP_001288169.1:n.502+141_502+144del
NM_001301241.1:c.502+141_502+144del	NP_001288170.1:n.502+141_502+144del
NM_001301242.1:c.531_534del	NP_001288171.1:p.Thr181ArgfsTer?
NM_001301243.1:c.*28_*31del	NP_001288172.1:n.*28_*31del
NM_004309.5:c.*28_*31del	NP_004300.1:n.*28_*31del
NR_125441.1:n.702_705del
XM_011523574.1:c.*28_*31del	XP_011521876.1:n.*28_*31del
NM_004309.6:c.*28_*31del MANE Select	NP_004300.1:n.*28_*31del
NM_001185077.3:c.*28_*31del	NP_001172006.1:n.*28_*31del
NM_001185078.3:c.*28_*31del	NP_001172007.1:n.*28_*31del
NM_001301240.2:c.502+141_502+144del	NP_001288169.1:n.502+141_502+144del
NM_001301241.2:c.502+141_502+144del	NP_001288170.1:n.502+141_502+144del
NM_001301242.2:c.531_534del	NP_001288171.1:p.Thr181ArgfsTer?
NM_001301243.2:c.*28_*31del	NP_001288172.1:n.*28_*31del
NR_125441.2:n.633_636del