Canonical Allele Identifier: CA746663490

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 645920
• ClinVar RCV Id: RCV000800099
• dbSNP Id: rs1462694166
• gnomAD v3: 20-761097-TGAGCAGCGCTCC-T
• gnomAD v4: 20-761097-TGAGCAGCGCTCC-T
• MyVariant Identifiers: chr20:g.741742_741753del (hg19) ; chr20:g.761098_761109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761106_761117del , CM000682.2:g.761106_761117del	GRCh38
NC_000020.10:g.741750_741761del , CM000682.1:g.741750_741761del	GRCh37
NC_000020.9:g.689750_689761del	NCBI36
NG_027687.1:g.12476_12487del
NG_027687.2:g.19877_19888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*541_*552del	ENSP00000371370.3:n.*541_*552del
ENST00000473664.2:c.821_832del	ENSP00000502741.1:p.Arg274_Ala277del
ENST00000488495.3:c.1327_1338del	ENSP00000494009.1:p.Gly443_Leu446del
ENST00000645534.1:c.1327_1338del MANE Select	ENSP00000494193.1:p.Gly443_Leu446del
ENST00000217254.11:c.1327_1338del	ENSP00000217254.7:p.Gly443_Leu446del
ENST00000381944.4:c.*541_*552del	ENSP00000371370.3:n.*541_*552del
ENST00000473664.1:n.872_883del
ENST00000632431.1:c.1327_1338del	ENSP00000488723.1:p.Gly443_Leu446del
NM_033409.3:c.1327_1338del	NP_212134.3:p.Gly443_Leu446del
XM_005260655.3:c.1327_1338del	XP_005260712.1:p.Gly443_Leu446del
XM_011529148.1:c.1327_1338del	XP_011527450.1:p.Gly443_Leu446del
XM_005260655.4:c.1327_1338del	XP_005260712.1:p.Gly443_Leu446del
XM_024451821.1:c.1327_1338del	XP_024307589.1:p.Gly443_Leu446del
NM_033409.4:c.1327_1338del MANE Select	NP_212134.3:p.Gly443_Leu446del
NM_001370085.1:c.1327_1338del	NP_001357014.1:p.Gly443_Leu446del
NM_001370086.1:c.1327_1338del	NP_001357015.1:p.Gly443_Leu446del