Canonical Allele Identifier: CA8843195

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs749862467
• ExAC: 17:79826766 CCTT / C
• gnomAD v2: 17-79826766-CCTT-C
• gnomAD v4: 17-81868890-CCTT-C
• MyVariant Identifiers: chr17:g.79826767_79826769del (hg19) ; chr17:g.81868892_81868894del (hg38) ; chr17:g.81868891_81868893del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868894_81868896del , CM000679.2:g.81868894_81868896del	GRCh38
NC_000017.10:g.79826770_79826772del , CM000679.1:g.79826770_79826772del	GRCh37
NC_000017.9:g.77420059_77420061del	NCBI36
NG_034210.1:g.7514_7516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.598_600del MANE Select	ENSP00000269321.7:p.Lys200del
ENST00000269321.11:c.598_600del	ENSP00000269321.7:p.Lys200del
ENST00000400721.8:c.466_468del	ENSP00000383556.4:p.Lys156del
ENST00000541078.6:c.598_600del	ENSP00000441348.2:p.Lys200del
ENST00000579121.5:c.502+96_502+98del	ENSP00000462960.1:n.502+96_502+98del
ENST00000580685.5:c.598_600del	ENSP00000464205.1:p.Lys200del
ENST00000581876.5:c.373_375del	ENSP00000461956.1:p.Lys125del
ENST00000582984.5:n.800_802del
ENST00000583868.5:c.486_488del	ENSP00000462209.1:p.Arg163del
ENST00000584461.5:c.502+96_502+98del	ENSP00000463939.1:n.502+96_502+98del
NM_001185077.2:c.598_600del	NP_001172006.1:p.Lys200del
NM_001185078.2:c.466_468del	NP_001172007.1:p.Lys156del
NM_001301240.1:c.502+96_502+98del	NP_001288169.1:n.502+96_502+98del
NM_001301241.1:c.502+96_502+98del	NP_001288170.1:n.502+96_502+98del
NM_001301242.1:c.486_488del	NP_001288171.1:p.Arg163del
NM_001301243.1:c.733_735del	NP_001288172.1:p.Lys245del
NM_004309.5:c.598_600del	NP_004300.1:p.Lys200del
NR_125441.1:n.657_659del
XM_011523574.1:c.733_735del	XP_011521876.1:p.Lys245del
NM_004309.6:c.598_600del MANE Select	NP_004300.1:p.Lys200del
NM_001185077.3:c.598_600del	NP_001172006.1:p.Lys200del
NM_001185078.3:c.466_468del	NP_001172007.1:p.Lys156del
NM_001301240.2:c.502+96_502+98del	NP_001288169.1:n.502+96_502+98del
NM_001301241.2:c.502+96_502+98del	NP_001288170.1:n.502+96_502+98del
NM_001301242.2:c.486_488del	NP_001288171.1:p.Arg163del
NM_001301243.2:c.733_735del	NP_001288172.1:p.Lys245del
NR_125441.2:n.588_590del