Canonical Allele Identifier: CA579552798

Gene: ARHGEF10

Linked Data

• dbSNP Id: rs1225714816
• gnomAD v2: 8-1806145-TA-T
• gnomAD v4: 8-1857979-TA-T
• MyVariant Identifiers: chr8:g.1806146del (hg19) ; chr8:g.1857980del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.1857980del , CM000670.2:g.1857980del	GRCh38
NC_000008.10:g.1806146del , CM000670.1:g.1806146del	GRCh37
NC_000008.9:g.1793553del	NCBI36
NG_008480.1:g.38998del , LRG_234:g.38998del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349830.8:c.58del MANE Select	ENSP00000340297.3:p.Thr20ProfsTer?
ENST00000635773.1:c.517del
ENST00000635855.1:c.*9del	ENSP00000489726.1:n.*9del
ENST00000636175.1:c.448del
ENST00000349830.7:c.58del	ENSP00000340297.3:p.Thr20ProfsTer?
ENST00000398564.5:c.130del	ENSP00000381571.1:p.Thr44ProfsTer?
ENST00000518288.5:c.130del	ENSP00000431012.1:p.Thr44ProfsTer?
ENST00000520359.5:c.58del	ENSP00000427909.1:p.Thr20ProfsTer?
NM_001308152.1:c.58del	NP_001295081.1:p.Thr20ProfsTer?
NM_001308153.1:c.130del	NP_001295082.1:p.Thr44ProfsTer?
NM_014629.2:c.58del , LRG_234t1:c.58del	NP_055444.2:p.Thr20ProfsTer?
NM_014629.3:c.58del	NP_055444.2:p.Thr20ProfsTer?
XM_005266041.2:c.58del	XP_005266098.1:p.Thr20ProfsTer?
XM_011534766.1:c.58del	XP_011533068.1:p.Thr20ProfsTer?
XM_011534767.1:c.58del	XP_011533069.1:p.Thr20ProfsTer?
XM_011534768.1:c.58del	XP_011533070.1:p.Thr20ProfsTer?
XM_011534769.1:c.13del	XP_011533071.1:p.Thr5ProfsTer?
XM_011534770.1:c.58del	XP_011533072.1:p.Thr20ProfsTer?
XM_005266041.4:c.58del	XP_005266098.1:p.Thr20ProfsTer?
XM_011534767.2:c.58del	XP_011533069.1:p.Thr20ProfsTer?
XM_011534770.2:c.58del	XP_011533072.1:p.Thr20ProfsTer?
XM_017014003.1:c.130del	XP_016869492.1:p.Thr44ProfsTer?
XM_024447334.1:c.58del	XP_024303102.1:p.Thr20ProfsTer?
XM_024447335.1:c.142del	XP_024303103.1:p.Thr48ProfsTer?
NM_014629.4:c.58del MANE Select	NP_055444.2:p.Thr20ProfsTer?
NM_001308152.2:c.58del	NP_001295081.1:p.Thr20ProfsTer?
NM_001308153.2:c.130del	NP_001295082.1:p.Thr44ProfsTer?