Canonical Allele Identifier: CA628024132

Gene: ARHGDIA

Linked Data

• dbSNP Id: rs1598279454
• gnomAD v2: 17-79826642-GCACGGAGGGCCTGTCAGCACTTTGGTATGGGGAGGGGAGGGGCT-G
• gnomAD v3: 17-81868766-GCACGGAGGGCCTGTCAGCACTTTGGTATGGGGAGGGGAGGGGCT-G
• gnomAD v4: 17-81868766-GCACGGAGGGCCTGTCAGCACTTTGGTATGGGGAGGGGAGGGGCT-G
• MyVariant Identifiers: chr17:g.79826643_79826686del (hg19) ; chr17:g.81868767_81868810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81868767_81868810del , CM000679.2:g.81868767_81868810del	GRCh38
NC_000017.10:g.79826643_79826686del , CM000679.1:g.79826643_79826686del	GRCh37
NC_000017.9:g.77419932_77419975del	NCBI36
NG_034210.1:g.7597_7640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269321.12:c.*66_*109del MANE Select	ENSP00000269321.7:n.*66_*109del
ENST00000269321.11:c.*66_*109del	ENSP00000269321.7:n.*66_*109del
ENST00000400721.8:c.*66_*109del	ENSP00000383556.4:n.*66_*109del
ENST00000541078.6:c.*66_*109del	ENSP00000441348.2:n.*66_*109del
ENST00000579121.5:c.502+179_503-183del	ENSP00000462960.1:n.502+179_503-183del
ENST00000580685.5:c.*66_*109del	ENSP00000464205.1:n.*66_*109del
ENST00000581876.5:c.*66_*109del	ENSP00000461956.1:n.*66_*109del
ENST00000583868.5:c.569_612del	ENSP00000462209.1:p.Gln190ProfsTer?
ENST00000584461.5:c.502+179_503-183del	ENSP00000463939.1:n.502+179_503-183del
NM_001185077.2:c.*66_*109del	NP_001172006.1:n.*66_*109del
NM_001185078.2:c.*66_*109del	NP_001172007.1:n.*66_*109del
NM_001301240.1:c.502+179_503-183del	NP_001288169.1:n.502+179_503-183del
NM_001301241.1:c.502+179_503-183del	NP_001288170.1:n.502+179_503-183del
NM_001301242.1:c.569_612del	NP_001288171.1:p.Gln190ProfsTer?
NM_001301243.1:c.*66_*109del	NP_001288172.1:n.*66_*109del
NM_004309.5:c.*66_*109del	NP_004300.1:n.*66_*109del
NR_125441.1:n.740_783del
XM_011523574.1:c.*66_*109del	XP_011521876.1:n.*66_*109del
NM_004309.6:c.*66_*109del MANE Select	NP_004300.1:n.*66_*109del
NM_001185077.3:c.*66_*109del	NP_001172006.1:n.*66_*109del
NM_001185078.3:c.*66_*109del	NP_001172007.1:n.*66_*109del
NM_001301240.2:c.502+179_503-183del	NP_001288169.1:n.502+179_503-183del
NM_001301241.2:c.502+179_503-183del	NP_001288170.1:n.502+179_503-183del
NM_001301242.2:c.569_612del	NP_001288171.1:p.Gln190ProfsTer?
NM_001301243.2:c.*66_*109del	NP_001288172.1:n.*66_*109del
NR_125441.2:n.671_714del