Canonical Allele Identifier: CA2497029948

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761009_761010delinsCG , CM000682.2:g.761009_761010delinsCG	GRCh38
NC_000020.10:g.741653_741654delinsCG , CM000682.1:g.741653_741654delinsCG	GRCh37
NC_000020.9:g.689653_689654delinsCG	NCBI36
NG_027687.1:g.12575_12576delinsCG
NG_027687.2:g.19976_19977delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*640_*641delinsCG	ENSP00000371370.3:n.*640_*641delinsCG
ENST00000473664.2:c.920_921delinsCG	ENSP00000502741.1:p.Pro307=
ENST00000488495.3:c.*16_*17delinsCG	ENSP00000494009.1:n.*16_*17delinsCG
ENST00000645534.1:c.*16_*17delinsCG MANE Select	ENSP00000494193.1:n.*16_*17delinsCG
ENST00000217254.11:c.*16_*17delinsCG	ENSP00000217254.7:n.*16_*17delinsCG
ENST00000381944.4:c.*640_*641delinsCG	ENSP00000371370.3:n.*640_*641delinsCG
ENST00000632431.1:c.*16_*17delinsCG	ENSP00000488723.1:n.*16_*17delinsCG
NM_033409.3:c.*16_*17delinsCG	NP_212134.3:n.*16_*17delinsCG
XM_005260655.3:c.*16_*17delinsCG	XP_005260712.1:n.*16_*17delinsCG
XM_011529148.1:c.*16_*17delinsCG	XP_011527450.1:n.*16_*17delinsCG
XM_005260655.4:c.*16_*17delinsCG	XP_005260712.1:n.*16_*17delinsCG
XM_024451821.1:c.*16_*17delinsCG	XP_024307589.1:n.*16_*17delinsCG
NM_033409.4:c.*16_*17delinsCG MANE Select	NP_212134.3:n.*16_*17delinsCG
NM_001370085.1:c.*16_*17delinsCG	NP_001357014.1:n.*16_*17delinsCG
NM_001370086.1:c.*16_*17delinsCG	NP_001357015.1:n.*16_*17delinsCG