Canonical Allele Identifier: CA2815001780

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763789_763797del , CM000682.2:g.763789_763797del	GRCh38
NC_000020.10:g.744433_744441del , CM000682.1:g.744433_744441del	GRCh37
NC_000020.9:g.692433_692441del	NCBI36
NG_027687.1:g.9790_9798del
NG_027687.2:g.17191_17199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.776_784del	ENSP00000371370.3:p.Gln259_Thr261del
ENST00000473664.2:c.567+1413_567+1421del	ENSP00000502741.1:n.567+1413_567+1421del
ENST00000488495.3:c.776_784del	ENSP00000494009.1:p.Gln259_Thr261del
ENST00000645534.1:c.776_784del MANE Select	ENSP00000494193.1:p.Gln259_Thr261del
ENST00000675066.1:c.776_784del	ENSP00000501902.1:p.Gln259_Thr261del
ENST00000217254.11:c.776_784del	ENSP00000217254.7:p.Gln259_Thr261del
ENST00000381944.4:c.776_784del	ENSP00000371370.3:p.Gln259_Thr261del
ENST00000473664.1:n.618+1413_618+1421del
ENST00000632431.1:c.776_784del	ENSP00000488723.1:p.Gln259_Thr261del
NM_033409.3:c.776_784del	NP_212134.3:p.Gln259_Thr261del
XM_005260655.3:c.776_784del	XP_005260712.1:p.Gln259_Thr261del
XM_011529148.1:c.776_784del	XP_011527450.1:p.Gln259_Thr261del
XM_005260655.4:c.776_784del	XP_005260712.1:p.Gln259_Thr261del
XM_024451821.1:c.776_784del	XP_024307589.1:p.Gln259_Thr261del
NM_033409.4:c.776_784del MANE Select	NP_212134.3:p.Gln259_Thr261del
NM_001370085.1:c.776_784del	NP_001357014.1:p.Gln259_Thr261del
NM_001370086.1:c.776_784del	NP_001357015.1:p.Gln259_Thr261del