Canonical Allele Identifier: CA2796414563

Gene: SLC35E3

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746748_68746750dup , CM000674.2:g.68746748_68746750dup	GRCh38
NC_000012.11:g.69140528_69140530dup , CM000674.1:g.69140528_69140530dup	GRCh37
NC_000012.10:g.67426795_67426797dup	NCBI36
NG_046600.2:g.64798_64800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.614_616dup
ENST00000398004.4:c.371_373dup MANE Select	ENSP00000381089.2:p.Lys124_Thr125insLys
ENST00000673712.1:c.371_373dup	ENSP00000501065.1:p.Lys124_Thr125insLys
ENST00000674096.1:c.371_373dup	ENSP00000501130.1:p.Lys124_Thr125insLys
ENST00000398004.3:c.371_373dup	ENSP00000381089.2:p.Lys124_Thr125insLys
NM_018656.2:c.371_373dup	NP_061126.2:p.Lys124_Thr125insLys
XM_005269006.2:c.371_373dup	XP_005269063.1:p.Lys124_Thr125insLys
NM_001354997.1:c.371_373dup	NP_001341926.1:p.Lys124_Thr125insLys
NM_001354998.1:c.371_373dup	NP_001341927.1:p.Lys124_Thr125insLys
NM_018656.3:c.371_373dup	NP_061126.2:p.Lys124_Thr125insLys
NR_149143.1:n.663_665dup
NR_149144.1:n.663_665dup
NM_001354997.3:c.371_373dup	NP_001341926.1:p.Lys124_Thr125insLys
NM_001354998.2:c.371_373dup	NP_001341927.1:p.Lys124_Thr125insLys
NM_018656.5:c.371_373dup MANE Select	NP_061126.2:p.Lys124_Thr125insLys
NR_149143.3:n.573_575dup
NR_149144.3:n.573_575dup