Canonical Allele Identifier: CA2345350346
Gene: SLC52A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765895_765897delinsCAG , CM000682.2:g.765895_765897delinsCAG GRCh38
NC_000020.10:g.746539_746541delinsCAG , CM000682.1:g.746539_746541delinsCAG GRCh37
NC_000020.9:g.694539_694541delinsCAG NCBI36
NG_027687.1:g.7688_7690delinsCTG
NG_027687.2:g.15089_15091delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.-51-72_-51-70delinsCTG ENSP00000371370.3:n.-51-72_-51-70delinsCTG
ENST00000488495.3:c.-123_-121delinsCTG ENSP00000494009.1:n.-123_-121delinsCTG
ENST00000645534.1:c.-51-72_-51-70delinsCTG MANE Select ENSP00000494193.1:n.-51-72_-51-70delinsCTG
ENST00000674666.1:c.-123_-121delinsCTG ENSP00000502783.1:n.-123_-121delinsCTG
ENST00000675066.1:c.-51-72_-51-70delinsCTG ENSP00000501902.1:n.-51-72_-51-70delinsCTG
ENST00000676154.1:c.-51-72_-51-70delinsCTG ENSP00000501807.1:n.-51-72_-51-70delinsCTG
ENST00000217254.11:c.-51-72_-51-70delinsCTG ENSP00000217254.7:n.-51-72_-51-70delinsCTG
ENST00000381944.4:c.-51-72_-51-70delinsCTG ENSP00000371370.3:n.-51-72_-51-70delinsCTG
ENST00000632431.1:c.-51-72_-51-70delinsCTG ENSP00000488723.1:n.-51-72_-51-70delinsCTG
NM_033409.3:c.-51-72_-51-70delinsCTG NP_212134.3:n.-51-72_-51-70delinsCTG
XM_005260655.3:c.-51-72_-51-70delinsCTG XP_005260712.1:n.-51-72_-51-70delinsCTG
XM_011529148.1:c.-123_-121delinsCTG XP_011527450.1:n.-123_-121delinsCTG
XM_005260655.4:c.-51-72_-51-70delinsCTG XP_005260712.1:n.-51-72_-51-70delinsCTG
XM_024451821.1:c.-51-72_-51-70delinsCTG XP_024307589.1:n.-51-72_-51-70delinsCTG
NM_033409.4:c.-51-72_-51-70delinsCTG MANE Select NP_212134.3:n.-51-72_-51-70delinsCTG
NM_001370085.1:c.-51-72_-51-70delinsCTG NP_001357014.1:n.-51-72_-51-70delinsCTG
NM_001370086.1:c.-123_-121delinsCTG NP_001357015.1:n.-123_-121delinsCTG