Canonical Allele Identifier: CA2345347898
Gene: SLC52A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.760713_760714delinsCG , CM000682.2:g.760713_760714delinsCG GRCh38
NC_000020.10:g.741357_741358delinsCG , CM000682.1:g.741357_741358delinsCG GRCh37
NC_000020.9:g.689357_689358delinsCG NCBI36
NG_027687.1:g.12871_12872delinsCG
NG_027687.2:g.20272_20273delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.*936_*937delinsCG ENSP00000371370.3:n.*936_*937delinsCG
ENST00000473664.2:c.*205_*206delinsCG ENSP00000502741.1:n.*205_*206delinsCG
ENST00000488495.3:c.*312_*313delinsCG ENSP00000494009.1:n.*312_*313delinsCG
ENST00000645534.1:c.*312_*313delinsCG MANE Select ENSP00000494193.1:n.*312_*313delinsCG
ENST00000217254.11:c.*312_*313delinsCG ENSP00000217254.7:n.*312_*313delinsCG
ENST00000381944.4:c.*936_*937delinsCG ENSP00000371370.3:n.*936_*937delinsCG
ENST00000632431.1:c.*312_*313delinsCG ENSP00000488723.1:n.*312_*313delinsCG
NM_033409.3:c.*312_*313delinsCG NP_212134.3:n.*312_*313delinsCG
XM_005260655.3:c.*312_*313delinsCG XP_005260712.1:n.*312_*313delinsCG
XM_011529148.1:c.*312_*313delinsCG XP_011527450.1:n.*312_*313delinsCG
XM_005260655.4:c.*312_*313delinsCG XP_005260712.1:n.*312_*313delinsCG
XM_024451821.1:c.*312_*313delinsCG XP_024307589.1:n.*312_*313delinsCG
NM_033409.4:c.*312_*313delinsCG MANE Select NP_212134.3:n.*312_*313delinsCG
NM_001370085.1:c.*312_*313delinsCG NP_001357014.1:n.*312_*313delinsCG
NM_001370086.1:c.*312_*313delinsCG NP_001357015.1:n.*312_*313delinsCG