Canonical Allele Identifier: CA2345350107

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765341_765382delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG , CM000682.2:g.765341_765382delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG	GRCh38
NC_000020.10:g.745985_746026delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG , CM000682.1:g.745985_746026delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG	GRCh37
NC_000020.9:g.693985_694026delinsTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGG	NCBI36
NG_027687.1:g.8203_8244delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA
NG_027687.2:g.15604_15645delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000371370.3:p.Ser131=
ENST00000473664.2:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000502741.1:p.Ser131=
ENST00000488495.3:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000494009.1:p.Ser131=
ENST00000645534.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA MANE Select	ENSP00000494193.1:p.Ser131=
ENST00000675066.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000501902.1:p.Ser131=
ENST00000676154.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000501807.1:p.Ser131=
ENST00000217254.11:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000217254.7:p.Ser131=
ENST00000381944.4:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000371370.3:p.Ser131=
ENST00000473664.1:n.444_485delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA
ENST00000632431.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	ENSP00000488723.1:p.Ser131=
NM_033409.3:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	NP_212134.3:p.Ser131=
XM_005260655.3:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	XP_005260712.1:p.Ser131=
XM_011529148.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	XP_011527450.1:p.Ser131=
XM_005260655.4:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	XP_005260712.1:p.Ser131=
XM_024451821.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	XP_024307589.1:p.Ser131=
NM_033409.4:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA MANE Select	NP_212134.3:p.Ser131=
NM_001370085.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	NP_001357014.1:p.Ser131=
NM_001370086.1:c.393_434delinsCCGGCTGCCCACCTACTACCTCACCACCTTCTTTGTGGGTGA	NP_001357015.1:p.Ser131=