Canonical Allele Identifier: CA2651546370

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-760941-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760941_760942insG , CM000682.2:g.760941_760942insG	GRCh38
NC_000020.10:g.741585_741586insG , CM000682.1:g.741585_741586insG	GRCh37
NC_000020.9:g.689585_689586insG	NCBI36
NG_027687.1:g.12643_12644insC
NG_027687.2:g.20044_20045insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*708_*709insC	ENSP00000371370.3:n.*708_*709insC
ENST00000473664.2:c.988_989insC	ENSP00000502741.1:p.Glu330AlafsTer7
ENST00000488495.3:c.*84_*85insC	ENSP00000494009.1:n.*84_*85insC
ENST00000645534.1:c.*84_*85insC MANE Select	ENSP00000494193.1:n.*84_*85insC
ENST00000217254.11:c.*84_*85insC	ENSP00000217254.7:n.*84_*85insC
ENST00000381944.4:c.*708_*709insC	ENSP00000371370.3:n.*708_*709insC
ENST00000632431.1:c.*84_*85insC	ENSP00000488723.1:n.*84_*85insC
NM_033409.3:c.*84_*85insC	NP_212134.3:n.*84_*85insC
XM_005260655.3:c.*84_*85insC	XP_005260712.1:n.*84_*85insC
XM_011529148.1:c.*84_*85insC	XP_011527450.1:n.*84_*85insC
XM_005260655.4:c.*84_*85insC	XP_005260712.1:n.*84_*85insC
XM_024451821.1:c.*84_*85insC	XP_024307589.1:n.*84_*85insC
NM_033409.4:c.*84_*85insC MANE Select	NP_212134.3:n.*84_*85insC
NM_001370085.1:c.*84_*85insC	NP_001357014.1:n.*84_*85insC
NM_001370086.1:c.*84_*85insC	NP_001357015.1:n.*84_*85insC