Canonical Allele Identifier: CA2487048

Gene: EOGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69009768_69009771del , CM000665.2:g.69009768_69009771del	GRCh38
NC_000003.11:g.69058919_69058922del , CM000665.1:g.69058919_69058922del	GRCh37
NC_000003.10:g.69141609_69141612del	NCBI36
NG_042829.1:g.9126_9129del

Transcript Alleles

HGVS	Amino-acid Change
NM_001278689.2:c.78_81del MANE Select	NP_001265618.1:p.His27AlafsTer?
ENST00000383701.8:c.78_81del MANE Select	ENSP00000373206.3:p.His27AlafsTer?
NM_001278689.1:c.78_81del	NP_001265618.1:p.His27AlafsTer?
NM_173654.2:c.78_81del	NP_775925.1:p.His27AlafsTer?
NM_173654.3:c.78_81del	NP_775925.1:p.His27AlafsTer?
NR_103826.1:n.754_757del
NR_103826.2:n.544_547del
ENST00000295571.9:c.78_81del	ENSP00000295571.5:p.His27AlafsTer?
ENST00000383701.7:c.78_81del	ENSP00000373206.3:p.His27AlafsTer?
ENST00000403140.6:c.78_81del	ENSP00000384124.2:p.His27AlafsTer?
ENST00000424374.5:c.78_81del	ENSP00000408090.1:p.His27AlafsTer?
ENST00000456376.2:c.78_81del	ENSP00000411832.1:p.His27AlafsTer?
ENST00000540764.5:c.78_81del	ENSP00000443780.2:p.His27AlafsTer?
ENST00000540955.5:c.78_81del	ENSP00000444264.2:p.His27AlafsTer?
XM_005264743.2:c.78_81del	XP_005264800.1:p.His27AlafsTer?
XM_011533599.1:c.78_81del	XP_011531901.1:p.His27AlafsTer?
XM_011533600.1:c.78_81del	XP_011531902.1:p.His27AlafsTer?
XM_011533601.1:c.78_81del	XP_011531903.1:p.His27AlafsTer?
XM_011533602.1:c.78_81del	XP_011531904.1:p.His27AlafsTer?
XM_011533603.1:c.78_81del	XP_011531905.1:p.His27AlafsTer?
XM_011533604.1:c.78_81del	XP_011531906.1:p.His27AlafsTer?
XM_011533605.1:c.78_81del	XP_011531907.1:p.His27AlafsTer?
XM_017006204.1:c.78_81del	XP_016861693.1:p.His27AlafsTer?
XM_017006205.1:c.78_81del	XP_016861694.1:p.His27AlafsTer?
XM_017006206.1:c.78_81del	XP_016861695.1:p.His27AlafsTer?
XM_017006208.1:c.78_81del	XP_016861697.1:p.His27AlafsTer?