Canonical Allele Identifier: CA2651547979

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-765894-CCAGAGTTTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765896_765906del , CM000682.2:g.765896_765906del	GRCh38
NC_000020.10:g.746540_746550del , CM000682.1:g.746540_746550del	GRCh37
NC_000020.9:g.694540_694550del	NCBI36
NG_027687.1:g.7680_7690del
NG_027687.2:g.15081_15091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.-51-80_-51-70del	ENSP00000371370.3:n.-51-80_-51-70del
ENST00000488495.3:c.-131_-121del	ENSP00000494009.1:n.-131_-121del
ENST00000645534.1:c.-51-80_-51-70del MANE Select	ENSP00000494193.1:n.-51-80_-51-70del
ENST00000674666.1:c.-131_-121del	ENSP00000502783.1:n.-131_-121del
ENST00000675066.1:c.-51-80_-51-70del	ENSP00000501902.1:n.-51-80_-51-70del
ENST00000676154.1:c.-51-80_-51-70del	ENSP00000501807.1:n.-51-80_-51-70del
ENST00000217254.11:c.-51-80_-51-70del	ENSP00000217254.7:n.-51-80_-51-70del
ENST00000381944.4:c.-51-80_-51-70del	ENSP00000371370.3:n.-51-80_-51-70del
ENST00000632431.1:c.-51-80_-51-70del	ENSP00000488723.1:n.-51-80_-51-70del
NM_033409.3:c.-51-80_-51-70del	NP_212134.3:n.-51-80_-51-70del
XM_005260655.3:c.-51-80_-51-70del	XP_005260712.1:n.-51-80_-51-70del
XM_011529148.1:c.-131_-121del	XP_011527450.1:n.-131_-121del
XM_005260655.4:c.-51-80_-51-70del	XP_005260712.1:n.-51-80_-51-70del
XM_024451821.1:c.-51-80_-51-70del	XP_024307589.1:n.-51-80_-51-70del
NM_033409.4:c.-51-80_-51-70del MANE Select	NP_212134.3:n.-51-80_-51-70del
NM_001370085.1:c.-51-80_-51-70del	NP_001357014.1:n.-51-80_-51-70del
NM_001370086.1:c.-131_-121del	NP_001357015.1:n.-131_-121del