Canonical Allele Identifier: CA2345348086

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.761097_761109delinsTGAGCAGCGCTCC , CM000682.2:g.761097_761109delinsTGAGCAGCGCTCC	GRCh38
NC_000020.10:g.741741_741753delinsTGAGCAGCGCTCC , CM000682.1:g.741741_741753delinsTGAGCAGCGCTCC	GRCh37
NC_000020.9:g.689741_689753delinsTGAGCAGCGCTCC	NCBI36
NG_027687.1:g.12476_12488delinsGGAGCGCTGCTCA
NG_027687.2:g.19877_19889delinsGGAGCGCTGCTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000381944.5:c.*541_*553delinsGGAGCGCTGCTCA	ENSP00000371370.3:n.*541_*553delinsGGAGCG...
ENST00000473664.2:c.821_833delinsGGAGCGCTGCTCA	ENSP00000502741.1:p.Arg274=
ENST00000488495.3:c.1327_1339delinsGGAGCGCTGCTCA	ENSP00000494009.1:p.Gly443=
ENST00000645534.1:c.1327_1339delinsGGAGCGCTGCTCA MANE Select	ENSP00000494193.1:p.Gly443=
ENST00000217254.11:c.1327_1339delinsGGAGCGCTGCTCA	ENSP00000217254.7:p.Gly443=
ENST00000381944.4:c.*541_*553delinsGGAGCGCTGCTCA	ENSP00000371370.3:n.*541_*553delinsGGAGCG...
ENST00000473664.1:n.872_884delinsGGAGCGCTGCTCA
ENST00000632431.1:c.1327_1339delinsGGAGCGCTGCTCA	ENSP00000488723.1:p.Gly443=
NM_033409.3:c.1327_1339delinsGGAGCGCTGCTCA	NP_212134.3:p.Gly443=
XM_005260655.3:c.1327_1339delinsGGAGCGCTGCTCA	XP_005260712.1:p.Gly443=
XM_011529148.1:c.1327_1339delinsGGAGCGCTGCTCA	XP_011527450.1:p.Gly443=
XM_005260655.4:c.1327_1339delinsGGAGCGCTGCTCA	XP_005260712.1:p.Gly443=
XM_024451821.1:c.1327_1339delinsGGAGCGCTGCTCA	XP_024307589.1:p.Gly443=
NM_033409.4:c.1327_1339delinsGGAGCGCTGCTCA MANE Select	NP_212134.3:p.Gly443=
NM_001370085.1:c.1327_1339delinsGGAGCGCTGCTCA	NP_001357014.1:p.Gly443=
NM_001370086.1:c.1327_1339delinsGGAGCGCTGCTCA	NP_001357015.1:p.Gly443=