Canonical Allele Identifier: CA2736222338

Gene: SLC52A3

Linked Data

• dbSNP Id: rs2122506081

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761176_761187del , CM000682.2:g.761176_761187del	GRCh38
NC_000020.10:g.741820_741831del , CM000682.1:g.741820_741831del	GRCh37
NC_000020.9:g.689820_689831del	NCBI36
NG_027687.1:g.12401_12412del
NG_027687.2:g.19802_19813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*466_*477del	ENSP00000371370.3:n.*466_*477del
ENST00000473664.2:c.746_757del	ENSP00000502741.1:p.Gly249_Pro252del
ENST00000488495.3:c.1252_1263del	ENSP00000494009.1:p.Gly418_Leu421del
ENST00000645534.1:c.1252_1263del MANE Select	ENSP00000494193.1:p.Gly418_Leu421del
ENST00000217254.11:c.1252_1263del	ENSP00000217254.7:p.Gly418_Leu421del
ENST00000381944.4:c.*466_*477del	ENSP00000371370.3:n.*466_*477del
ENST00000473664.1:n.797_808del
ENST00000632431.1:c.1252_1263del	ENSP00000488723.1:p.Gly418_Leu421del
NM_033409.3:c.1252_1263del	NP_212134.3:p.Gly418_Leu421del
XM_005260655.3:c.1252_1263del	XP_005260712.1:p.Gly418_Leu421del
XM_011529148.1:c.1252_1263del	XP_011527450.1:p.Gly418_Leu421del
XM_005260655.4:c.1252_1263del	XP_005260712.1:p.Gly418_Leu421del
XM_024451821.1:c.1252_1263del	XP_024307589.1:p.Gly418_Leu421del
NM_033409.4:c.1252_1263del MANE Select	NP_212134.3:p.Gly418_Leu421del
NM_001370085.1:c.1252_1263del	NP_001357014.1:p.Gly418_Leu421del
NM_001370086.1:c.1252_1263del	NP_001357015.1:p.Gly418_Leu421del