Canonical Allele Identifier: CA2345348094

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761109_761111delinsCGA , CM000682.2:g.761109_761111delinsCGA	GRCh38
NC_000020.10:g.741753_741755delinsCGA , CM000682.1:g.741753_741755delinsCGA	GRCh37
NC_000020.9:g.689753_689755delinsCGA	NCBI36
NG_027687.1:g.12474_12476delinsTCG
NG_027687.2:g.19875_19877delinsTCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*539_*541delinsTCG	ENSP00000371370.3:n.*539_*541delinsTCG
ENST00000473664.2:c.819_821delinsTCG	ENSP00000502741.1:p.Ala273=
ENST00000488495.3:c.1325_1327delinsTCG	ENSP00000494009.1:p.Leu442=
ENST00000645534.1:c.1325_1327delinsTCG MANE Select	ENSP00000494193.1:p.Leu442=
ENST00000217254.11:c.1325_1327delinsTCG	ENSP00000217254.7:p.Leu442=
ENST00000381944.4:c.*539_*541delinsTCG	ENSP00000371370.3:n.*539_*541delinsTCG
ENST00000473664.1:n.870_872delinsTCG
ENST00000632431.1:c.1325_1327delinsTCG	ENSP00000488723.1:p.Leu442=
NM_033409.3:c.1325_1327delinsTCG	NP_212134.3:p.Leu442=
XM_005260655.3:c.1325_1327delinsTCG	XP_005260712.1:p.Leu442=
XM_011529148.1:c.1325_1327delinsTCG	XP_011527450.1:p.Leu442=
XM_005260655.4:c.1325_1327delinsTCG	XP_005260712.1:p.Leu442=
XM_024451821.1:c.1325_1327delinsTCG	XP_024307589.1:p.Leu442=
NM_033409.4:c.1325_1327delinsTCG MANE Select	NP_212134.3:p.Leu442=
NM_001370085.1:c.1325_1327delinsTCG	NP_001357014.1:p.Leu442=
NM_001370086.1:c.1325_1327delinsTCG	NP_001357015.1:p.Leu442=