Canonical Allele Identifier: CA2345349408

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763817_763818delinsCG , CM000682.2:g.763817_763818delinsCG	GRCh38
NC_000020.10:g.744461_744462delinsCG , CM000682.1:g.744461_744462delinsCG	GRCh37
NC_000020.9:g.692461_692462delinsCG	NCBI36
NG_027687.1:g.9767_9768delinsCG
NG_027687.2:g.17168_17169delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.753_754delinsCG	ENSP00000371370.3:p.Ser251=
ENST00000473664.2:c.567+1390_567+1391delinsCG	ENSP00000502741.1:n.567+1390_567+1391delinsCG
ENST00000488495.3:c.753_754delinsCG	ENSP00000494009.1:p.Ser251=
ENST00000645534.1:c.753_754delinsCG MANE Select	ENSP00000494193.1:p.Ser251=
ENST00000675066.1:c.753_754delinsCG	ENSP00000501902.1:p.Ser251=
ENST00000217254.11:c.753_754delinsCG	ENSP00000217254.7:p.Ser251=
ENST00000381944.4:c.753_754delinsCG	ENSP00000371370.3:p.Ser251=
ENST00000473664.1:n.618+1390_618+1391delinsCG
ENST00000632431.1:c.753_754delinsCG	ENSP00000488723.1:p.Ser251=
NM_033409.3:c.753_754delinsCG	NP_212134.3:p.Ser251=
XM_005260655.3:c.753_754delinsCG	XP_005260712.1:p.Ser251=
XM_011529148.1:c.753_754delinsCG	XP_011527450.1:p.Ser251=
XM_005260655.4:c.753_754delinsCG	XP_005260712.1:p.Ser251=
XM_024451821.1:c.753_754delinsCG	XP_024307589.1:p.Ser251=
NM_033409.4:c.753_754delinsCG MANE Select	NP_212134.3:p.Ser251=
NM_001370085.1:c.753_754delinsCG	NP_001357014.1:p.Ser251=
NM_001370086.1:c.753_754delinsCG	NP_001357015.1:p.Ser251=