Canonical Allele Identifier: CA143755

Gene: ARHGDIA

Linked Data

• ClinVar Variation Id: 50501
• ClinVar RCV Id: RCV000043532
• dbSNP Id: rs587776969
• gnomAD v4: 17-81868935-TGTC-T
• MyVariant Identifiers: chr17:g.79826812_79826814del (hg19) ; chr17:g.81868936_81868938del (hg38)
• PubMed: PMID:23434736

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868942_81868944del , CM000679.2:g.81868942_81868944del	GRCh38
NC_000017.10:g.79826818_79826820del , CM000679.1:g.79826818_79826820del	GRCh37
NC_000017.9:g.77420107_77420109del	NCBI36
NG_034210.1:g.7469_7471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.553_555del MANE Select	ENSP00000269321.7:p.Asp185del
ENST00000269321.11:c.553_555del	ENSP00000269321.7:p.Asp185del
ENST00000400721.8:c.421_423del
ENST00000541078.6:c.553_555del	ENSP00000441348.2:p.Asp185del
ENST00000579121.5:c.502+51_502+53del	ENSP00000462960.1:n.502+51_502+53del
ENST00000580033.5:c.*197_*199del	ENSP00000463530.1:n.*197_*199del
ENST00000580685.5:c.553_555del	ENSP00000464205.1:p.Asp185del
ENST00000581876.5:c.328_330del	ENSP00000461956.1:p.Asp110del
ENST00000582984.5:n.755_757del
ENST00000583868.5:c.441_443del
ENST00000584461.5:c.502+51_502+53del	ENSP00000463939.1:n.502+51_502+53del
NM_001185077.2:c.553_555del	NP_001172006.1:p.Asp185del
NM_001185078.2:c.421_423del
NM_001301240.1:c.502+51_502+53del	NP_001288169.1:n.502+51_502+53del
NM_001301241.1:c.502+51_502+53del	NP_001288170.1:n.502+51_502+53del
NM_001301242.1:c.441_443del
NM_001301243.1:c.688_690del	NP_001288172.1:p.Asp230del
NM_004309.5:c.553_555del	NP_004300.1:p.Asp185del
NR_125441.1:n.612_614del
XM_011523574.1:c.688_690del	XP_011521876.1:p.Asp230del
NM_004309.6:c.553_555del MANE Select	NP_004300.1:p.Asp185del
NM_001185077.3:c.553_555del	NP_001172006.1:p.Asp185del
NM_001185078.3:c.421_423del
NM_001301240.2:c.502+51_502+53del	NP_001288169.1:n.502+51_502+53del
NM_001301241.2:c.502+51_502+53del	NP_001288170.1:n.502+51_502+53del
NM_001301242.2:c.441_443del
NM_001301243.2:c.688_690del	NP_001288172.1:p.Asp230del
NR_125441.2:n.543_545del