Canonical Allele Identifier: CA2651548066
Gene: SLC52A3 HGNC NCBI

Linked Data

gnomAD v4: 20-765936-G-GA

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765936_765937insA , CM000682.2:g.765936_765937insA GRCh38
NC_000020.10:g.746580_746581insA , CM000682.1:g.746580_746581insA GRCh37
NC_000020.9:g.694580_694581insA NCBI36
NG_027687.1:g.7648_7649insT
NG_027687.2:g.15049_15050insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.-51-112_-51-111insT ENSP00000371370.3:n.-51-112_-51-111insT
ENST00000488495.3:c.-163_-162insT ENSP00000494009.1:n.-163_-162insT
ENST00000645534.1:c.-51-112_-51-111insT MANE Select ENSP00000494193.1:n.-51-112_-51-111insT
ENST00000674666.1:c.-163_-162insT ENSP00000502783.1:n.-163_-162insT
ENST00000675066.1:c.-51-112_-51-111insT ENSP00000501902.1:n.-51-112_-51-111insT
ENST00000676154.1:c.-51-112_-51-111insT ENSP00000501807.1:n.-51-112_-51-111insT
ENST00000217254.11:c.-51-112_-51-111insT ENSP00000217254.7:n.-51-112_-51-111insT
ENST00000381944.4:c.-51-112_-51-111insT ENSP00000371370.3:n.-51-112_-51-111insT
ENST00000632431.1:c.-51-112_-51-111insT ENSP00000488723.1:n.-51-112_-51-111insT
NM_033409.3:c.-51-112_-51-111insT NP_212134.3:n.-51-112_-51-111insT
XM_005260655.3:c.-51-112_-51-111insT XP_005260712.1:n.-51-112_-51-111insT
XM_011529148.1:c.-163_-162insT XP_011527450.1:n.-163_-162insT
XM_005260655.4:c.-51-112_-51-111insT XP_005260712.1:n.-51-112_-51-111insT
XM_024451821.1:c.-51-112_-51-111insT XP_024307589.1:n.-51-112_-51-111insT
NM_033409.4:c.-51-112_-51-111insT MANE Select NP_212134.3:n.-51-112_-51-111insT
NM_001370085.1:c.-51-112_-51-111insT NP_001357014.1:n.-51-112_-51-111insT
NM_001370086.1:c.-163_-162insT NP_001357015.1:n.-163_-162insT