Canonical Allele Identifier: CA2345347972

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760924_760928delinsTACTC , CM000682.2:g.760924_760928delinsTACTC	GRCh38
NC_000020.10:g.741568_741572delinsTACTC , CM000682.1:g.741568_741572delinsTACTC	GRCh37
NC_000020.9:g.689568_689572delinsTACTC	NCBI36
NG_027687.1:g.12657_12661delinsGAGTA
NG_027687.2:g.20058_20062delinsGAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*722_*726delinsGAGTA	ENSP00000371370.3:n.*722_*726delinsGAGTA
ENST00000473664.2:c.1002_1006delinsGAGTA	ENSP00000502741.1:p.Leu334=
ENST00000488495.3:c.*98_*102delinsGAGTA	ENSP00000494009.1:n.*98_*102delinsGAGTA
ENST00000645534.1:c.*98_*102delinsGAGTA MANE Select	ENSP00000494193.1:n.*98_*102delinsGAGTA
ENST00000217254.11:c.*98_*102delinsGAGTA	ENSP00000217254.7:n.*98_*102delinsGAGTA
ENST00000381944.4:c.*722_*726delinsGAGTA	ENSP00000371370.3:n.*722_*726delinsGAGTA
ENST00000632431.1:c.*98_*102delinsGAGTA	ENSP00000488723.1:n.*98_*102delinsGAGTA
NM_033409.3:c.*98_*102delinsGAGTA	NP_212134.3:n.*98_*102delinsGAGTA
XM_005260655.3:c.*98_*102delinsGAGTA	XP_005260712.1:n.*98_*102delinsGAGTA
XM_011529148.1:c.*98_*102delinsGAGTA	XP_011527450.1:n.*98_*102delinsGAGTA
XM_005260655.4:c.*98_*102delinsGAGTA	XP_005260712.1:n.*98_*102delinsGAGTA
XM_024451821.1:c.*98_*102delinsGAGTA	XP_024307589.1:n.*98_*102delinsGAGTA
NM_033409.4:c.*98_*102delinsGAGTA MANE Select	NP_212134.3:n.*98_*102delinsGAGTA
NM_001370085.1:c.*98_*102delinsGAGTA	NP_001357014.1:n.*98_*102delinsGAGTA
NM_001370086.1:c.*98_*102delinsGAGTA	NP_001357015.1:n.*98_*102delinsGAGTA