Canonical Allele Identifier: CA920149525

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1568720314

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763550_763558del , CM000682.2:g.763550_763558del	GRCh38
NC_000020.10:g.744194_744202del , CM000682.1:g.744194_744202del	GRCh37
NC_000020.9:g.692194_692202del	NCBI36
NG_027687.1:g.10027_10035del
NG_027687.2:g.17428_17436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.1013_1021del	ENSP00000371370.3:p.Ala338_Ser341delinsGly
ENST00000473664.2:c.567+1650_567+1658del	ENSP00000502741.1:n.567+1650_567+1658del
ENST00000488495.3:c.1013_1021del	ENSP00000494009.1:p.Ala338_Ser341delinsGly
ENST00000645534.1:c.1013_1021del MANE Select	ENSP00000494193.1:p.Ala338_Ser341delinsGly
ENST00000675066.1:c.1013_1021del	ENSP00000501902.1:p.Ala338_Ser341delinsGly
ENST00000217254.11:c.1013_1021del	ENSP00000217254.7:p.Ala338_Ser341delinsGly
ENST00000381944.4:c.1013_1021del	ENSP00000371370.3:p.Ala338_Ser341delinsGly
ENST00000473664.1:n.618+1650_618+1658del
ENST00000632431.1:c.1013_1021del	ENSP00000488723.1:p.Ala338_Ser341delinsGly
NM_033409.3:c.1013_1021del	NP_212134.3:p.Ala338_Ser341delinsGly
XM_005260655.3:c.1013_1021del	XP_005260712.1:p.Ala338_Ser341delinsGly
XM_011529148.1:c.1013_1021del	XP_011527450.1:p.Ala338_Ser341delinsGly
XM_005260655.4:c.1013_1021del	XP_005260712.1:p.Ala338_Ser341delinsGly
XM_024451821.1:c.1013_1021del	XP_024307589.1:p.Ala338_Ser341delinsGly
NM_033409.4:c.1013_1021del MANE Select	NP_212134.3:p.Ala338_Ser341delinsGly
NM_001370085.1:c.1013_1021del	NP_001357014.1:p.Ala338_Ser341delinsGly
NM_001370086.1:c.1013_1021del	NP_001357015.1:p.Ala338_Ser341delinsGly