Canonical Allele Identifier: CA2577315103

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.764017_764018insTCAGGTCAA , CM000682.2:g.764017_764018insTCAGGTCAA	GRCh38
NC_000020.10:g.744661_744662insTCAGGTCAA , CM000682.1:g.744661_744662insTCAGGTCAA	GRCh37
NC_000020.9:g.692661_692662insTCAGGTCAA	NCBI36
NG_027687.1:g.9567_9568insTTGACCTGA
NG_027687.2:g.16968_16969insTTGACCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.568-15_568-14insTTGACCTGA	ENSP00000371370.3:n.568-15_568-14insTTGACCTGA
ENST00000473664.2:c.567+1190_567+1191insTTGACCTGA	ENSP00000502741.1:n.567+1190_567+1191insTTGACCTGA
ENST00000488495.3:c.568-15_568-14insTTGACCTGA	ENSP00000494009.1:n.568-15_568-14insTTGACCTGA
ENST00000645534.1:c.568-15_568-14insTTGACCTGA MANE Select	ENSP00000494193.1:n.568-15_568-14insTTGACCTGA
ENST00000675066.1:c.568-15_568-14insTTGACCTGA	ENSP00000501902.1:n.568-15_568-14insTTGACCTGA
ENST00000676154.1:c.568-15_568-14insTTGACCTGA	ENSP00000501807.1:n.568-15_568-14insTTGACCTGA
ENST00000217254.11:c.568-15_568-14insTTGACCTGA	ENSP00000217254.7:n.568-15_568-14insTTGACCTGA
ENST00000381944.4:c.568-15_568-14insTTGACCTGA	ENSP00000371370.3:n.568-15_568-14insTTGACCTGA
ENST00000473664.1:n.618+1190_618+1191insTTGACCTGA
ENST00000632431.1:c.568-15_568-14insTTGACCTGA	ENSP00000488723.1:n.568-15_568-14insTTGACCTGA
NM_033409.3:c.568-15_568-14insTTGACCTGA	NP_212134.3:n.568-15_568-14insTTGACCTGA
XM_005260655.3:c.568-15_568-14insTTGACCTGA	XP_005260712.1:n.568-15_568-14insTTGACCTGA
XM_011529148.1:c.568-15_568-14insTTGACCTGA	XP_011527450.1:n.568-15_568-14insTTGACCTGA
XM_005260655.4:c.568-15_568-14insTTGACCTGA	XP_005260712.1:n.568-15_568-14insTTGACCTGA
XM_024451821.1:c.568-15_568-14insTTGACCTGA	XP_024307589.1:n.568-15_568-14insTTGACCTGA
NM_033409.4:c.568-15_568-14insTTGACCTGA MANE Select	NP_212134.3:n.568-15_568-14insTTGACCTGA
NM_001370085.1:c.568-15_568-14insTTGACCTGA	NP_001357014.1:n.568-15_568-14insTTGACCTGA
NM_001370086.1:c.568-15_568-14insTTGACCTGA	NP_001357015.1:n.568-15_568-14insTTGACCTGA