Canonical Allele Identifier: CA2651547981
Gene: SLC52A3 HGNC NCBI

Linked Data

gnomAD v4: 20-765897-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765897_765898insC , CM000682.2:g.765897_765898insC GRCh38
NC_000020.10:g.746541_746542insC , CM000682.1:g.746541_746542insC GRCh37
NC_000020.9:g.694541_694542insC NCBI36
NG_027687.1:g.7687_7688insG
NG_027687.2:g.15088_15089insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.-51-73_-51-72insG ENSP00000371370.3:n.-51-73_-51-72insG
ENST00000488495.3:c.-124_-123insG ENSP00000494009.1:n.-124_-123insG
ENST00000645534.1:c.-51-73_-51-72insG MANE Select ENSP00000494193.1:n.-51-73_-51-72insG
ENST00000674666.1:c.-124_-123insG ENSP00000502783.1:n.-124_-123insG
ENST00000675066.1:c.-51-73_-51-72insG ENSP00000501902.1:n.-51-73_-51-72insG
ENST00000676154.1:c.-51-73_-51-72insG ENSP00000501807.1:n.-51-73_-51-72insG
ENST00000217254.11:c.-51-73_-51-72insG ENSP00000217254.7:n.-51-73_-51-72insG
ENST00000381944.4:c.-51-73_-51-72insG ENSP00000371370.3:n.-51-73_-51-72insG
ENST00000632431.1:c.-51-73_-51-72insG ENSP00000488723.1:n.-51-73_-51-72insG
NM_033409.3:c.-51-73_-51-72insG NP_212134.3:n.-51-73_-51-72insG
XM_005260655.3:c.-51-73_-51-72insG XP_005260712.1:n.-51-73_-51-72insG
XM_011529148.1:c.-124_-123insG XP_011527450.1:n.-124_-123insG
XM_005260655.4:c.-51-73_-51-72insG XP_005260712.1:n.-51-73_-51-72insG
XM_024451821.1:c.-51-73_-51-72insG XP_024307589.1:n.-51-73_-51-72insG
NM_033409.4:c.-51-73_-51-72insG MANE Select NP_212134.3:n.-51-73_-51-72insG
NM_001370085.1:c.-51-73_-51-72insG NP_001357014.1:n.-51-73_-51-72insG
NM_001370086.1:c.-124_-123insG NP_001357015.1:n.-124_-123insG