Canonical Allele Identifier: CA214430

Gene: EOGT

Linked Data

• ClinVar Variation Id: 55817
• ClinVar RCV Id: RCV000049242 ; RCV000162168 ; RCV001091100
• dbSNP Id: rs587776994
• gnomAD v3: 3-68988303-CT-C
• gnomAD v4: 3-68988303-CT-C
• MyVariant Identifiers: chr3:g.69037455del (hg19) ; chr3:g.68988304del (hg38)
• PubMed: PMID:23522784 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.68988305del , CM000665.2:g.68988305del	GRCh38
NC_000003.11:g.69037456del , CM000665.1:g.69037456del	GRCh37
NC_000003.10:g.69120146del	NCBI36
NG_042829.1:g.30591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383701.8:c.1074del MANE Select	ENSP00000373206.3:p.Gly359AspfsTer28
ENST00000295571.9:c.832-791del	ENSP00000295571.5:n.832-791del
ENST00000383701.7:c.1074del	ENSP00000373206.3:p.Gly359AspfsTer28
ENST00000403140.6:c.*242del	ENSP00000384124.2:n.*242del
ENST00000496647.5:n.728del
ENST00000540764.5:c.1074del	ENSP00000443780.2:p.Gly359AspfsTer28
ENST00000540955.5:c.832-791del	ENSP00000444264.2:n.832-791del
NM_001278689.1:c.1074del	NP_001265618.1:p.Gly359AspfsTer28
NM_173654.2:c.832-791del	NP_775925.1:n.832-791del
NR_103826.1:n.1539del
XM_005264743.2:c.1074del	XP_005264800.1:p.Gly359AspfsTer28
XM_011533599.1:c.1128del	XP_011531901.1:p.Gly377AspfsTer28
XM_011533600.1:c.1128del	XP_011531902.1:p.Gly377AspfsTer28
XM_011533601.1:c.1128del	XP_011531903.1:p.Gly377AspfsTer28
XM_011533602.1:c.1128del	XP_011531904.1:p.Gly377AspfsTer28
XM_011533603.1:c.1125del	XP_011531905.1:p.Gly376AspfsTer28
XM_017006204.1:c.1125del	XP_016861693.1:p.Gly376AspfsTer28
XM_017006205.1:c.1074del	XP_016861694.1:p.Gly359AspfsTer28
XM_017006206.1:c.1074del	XP_016861695.1:p.Gly359AspfsTer28
XM_017006207.1:c.393del	XP_016861696.1:p.Gly132AspfsTer28
XM_017006209.1:c.249del	XP_016861698.1:p.Gly84AspfsTer28
NM_001278689.2:c.1074del MANE Select	NP_001265618.1:p.Gly359AspfsTer28
NM_173654.3:c.832-791del	NP_775925.1:n.832-791del
NR_103826.2:n.1329del