Canonical Allele Identifier: CA2651546307

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-760883-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760886_760887del , CM000682.2:g.760886_760887del	GRCh38
NC_000020.10:g.741530_741531del , CM000682.1:g.741530_741531del	GRCh37
NC_000020.9:g.689530_689531del	NCBI36
NG_027687.1:g.12700_12701del
NG_027687.2:g.20101_20102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*765_*766del	ENSP00000371370.3:n.*765_*766del
ENST00000473664.2:c.*34_*35del	ENSP00000502741.1:n.*34_*35del
ENST00000488495.3:c.*141_*142del	ENSP00000494009.1:n.*141_*142del
ENST00000645534.1:c.*141_*142del MANE Select	ENSP00000494193.1:n.*141_*142del
ENST00000217254.11:c.*141_*142del	ENSP00000217254.7:n.*141_*142del
ENST00000381944.4:c.*765_*766del	ENSP00000371370.3:n.*765_*766del
ENST00000632431.1:c.*141_*142del	ENSP00000488723.1:n.*141_*142del
NM_033409.3:c.*141_*142del	NP_212134.3:n.*141_*142del
XM_005260655.3:c.*141_*142del	XP_005260712.1:n.*141_*142del
XM_011529148.1:c.*141_*142del	XP_011527450.1:n.*141_*142del
XM_005260655.4:c.*141_*142del	XP_005260712.1:n.*141_*142del
XM_024451821.1:c.*141_*142del	XP_024307589.1:n.*141_*142del
NM_033409.4:c.*141_*142del MANE Select	NP_212134.3:n.*141_*142del
NM_001370085.1:c.*141_*142del	NP_001357014.1:n.*141_*142del
NM_001370086.1:c.*141_*142del	NP_001357015.1:n.*141_*142del