Canonical Allele Identifier: CA2815001717
Gene: SLC52A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.760896del , CM000682.2:g.760896del GRCh38
NC_000020.10:g.741540del , CM000682.1:g.741540del GRCh37
NC_000020.9:g.689540del NCBI36
NG_027687.1:g.12692del
NG_027687.2:g.20093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.*757del ENSP00000371370.3:n.*757del
ENST00000473664.2:c.*26del ENSP00000502741.1:n.*26del
ENST00000488495.3:c.*133del ENSP00000494009.1:n.*133del
ENST00000645534.1:c.*133del MANE Select ENSP00000494193.1:n.*133del
ENST00000217254.11:c.*133del ENSP00000217254.7:n.*133del
ENST00000381944.4:c.*757del ENSP00000371370.3:n.*757del
ENST00000632431.1:c.*133del ENSP00000488723.1:n.*133del
NM_033409.3:c.*133del NP_212134.3:n.*133del
XM_005260655.3:c.*133del XP_005260712.1:n.*133del
XM_011529148.1:c.*133del XP_011527450.1:n.*133del
XM_005260655.4:c.*133del XP_005260712.1:n.*133del
XM_024451821.1:c.*133del XP_024307589.1:n.*133del
NM_033409.4:c.*133del MANE Select NP_212134.3:n.*133del
NM_001370085.1:c.*133del NP_001357014.1:n.*133del
NM_001370086.1:c.*133del NP_001357015.1:n.*133del