Canonical Allele Identifier: CA2815008338
Gene: SLC52A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.764155_764156del , CM000682.2:g.764155_764156del GRCh38
NC_000020.10:g.744799_744800del , CM000682.1:g.744799_744800del GRCh37
NC_000020.9:g.692799_692800del NCBI36
NG_027687.1:g.9429_9430del
NG_027687.2:g.16830_16831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.568-153_568-152del ENSP00000371370.3:n.568-153_568-152del
ENST00000473664.2:c.567+1052_567+1053del ENSP00000502741.1:n.567+1052_567+1053del
ENST00000488495.3:c.568-153_568-152del ENSP00000494009.1:n.568-153_568-152del
ENST00000645534.1:c.568-153_568-152del MANE Select ENSP00000494193.1:n.568-153_568-152del
ENST00000675066.1:c.568-153_568-152del ENSP00000501902.1:n.568-153_568-152del
ENST00000676154.1:c.568-153_568-152del ENSP00000501807.1:n.568-153_568-152del
ENST00000217254.11:c.568-153_568-152del ENSP00000217254.7:n.568-153_568-152del
ENST00000381944.4:c.568-153_568-152del ENSP00000371370.3:n.568-153_568-152del
ENST00000473664.1:n.618+1052_618+1053del
ENST00000632431.1:c.568-153_568-152del ENSP00000488723.1:n.568-153_568-152del
NM_033409.3:c.568-153_568-152del NP_212134.3:n.568-153_568-152del
XM_005260655.3:c.568-153_568-152del XP_005260712.1:n.568-153_568-152del
XM_011529148.1:c.568-153_568-152del XP_011527450.1:n.568-153_568-152del
XM_005260655.4:c.568-153_568-152del XP_005260712.1:n.568-153_568-152del
XM_024451821.1:c.568-153_568-152del XP_024307589.1:n.568-153_568-152del
NM_033409.4:c.568-153_568-152del MANE Select NP_212134.3:n.568-153_568-152del
NM_001370085.1:c.568-153_568-152del NP_001357014.1:n.568-153_568-152del
NM_001370086.1:c.568-153_568-152del NP_001357015.1:n.568-153_568-152del