Canonical Allele Identifier: CA1139666615

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 937442
• ClinVar RCV Id: RCV001206451
• dbSNP Id: rs1462694166
• gnomAD v4: 20-761097-T-TGAGCAGCGCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761106_761117dup , CM000682.2:g.761106_761117dup	GRCh38
NC_000020.10:g.741750_741761dup , CM000682.1:g.741750_741761dup	GRCh37
NC_000020.9:g.689750_689761dup	NCBI36
NG_027687.1:g.12476_12487dup
NG_027687.2:g.19877_19888dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*541_*552dup	ENSP00000371370.3:n.*541_*552dup
ENST00000473664.2:c.821_832dup	ENSP00000502741.1:p.Ala277_His278insArgSe...
ENST00000488495.3:c.1327_1338dup	ENSP00000494009.1:p.Leu446_Met447insGlyAl...
ENST00000645534.1:c.1327_1338dup MANE Select	ENSP00000494193.1:p.Leu446_Met447insGlyAl...
ENST00000217254.11:c.1327_1338dup	ENSP00000217254.7:p.Leu446_Met447insGlyAl...
ENST00000381944.4:c.*541_*552dup	ENSP00000371370.3:n.*541_*552dup
ENST00000473664.1:n.872_883dup
ENST00000632431.1:c.1327_1338dup	ENSP00000488723.1:p.Leu446_Met447insGlyAl...
NM_033409.3:c.1327_1338dup	NP_212134.3:p.Leu446_Met447insGlyAlaLeuLe...
XM_005260655.3:c.1327_1338dup	XP_005260712.1:p.Leu446_Met447insGlyAlaLe...
XM_011529148.1:c.1327_1338dup	XP_011527450.1:p.Leu446_Met447insGlyAlaLe...
XM_005260655.4:c.1327_1338dup	XP_005260712.1:p.Leu446_Met447insGlyAlaLe...
XM_024451821.1:c.1327_1338dup	XP_024307589.1:p.Leu446_Met447insGlyAlaLe...
NM_033409.4:c.1327_1338dup MANE Select	NP_212134.3:p.Leu446_Met447insGlyAlaLeuLe...
NM_001370085.1:c.1327_1338dup	NP_001357014.1:p.Leu446_Met447insGlyAlaLe...
NM_001370086.1:c.1327_1338dup	NP_001357015.1:p.Leu446_Met447insGlyAlaLe...