Canonical Allele Identifier: CA2345349387

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763779_763780delinsGG , CM000682.2:g.763779_763780delinsGG	GRCh38
NC_000020.10:g.744423_744424delinsGG , CM000682.1:g.744423_744424delinsGG	GRCh37
NC_000020.9:g.692423_692424delinsGG	NCBI36
NG_027687.1:g.9805_9806delinsCC
NG_027687.2:g.17206_17207delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.791_792delinsCC	ENSP00000371370.3:p.Ser264=
ENST00000473664.2:c.567+1428_567+1429delinsCC	ENSP00000502741.1:n.567+1428_567+1429delinsCC
ENST00000488495.3:c.791_792delinsCC	ENSP00000494009.1:p.Ser264=
ENST00000645534.1:c.791_792delinsCC MANE Select	ENSP00000494193.1:p.Ser264=
ENST00000675066.1:c.791_792delinsCC	ENSP00000501902.1:p.Ser264=
ENST00000217254.11:c.791_792delinsCC	ENSP00000217254.7:p.Ser264=
ENST00000381944.4:c.791_792delinsCC	ENSP00000371370.3:p.Ser264=
ENST00000473664.1:n.618+1428_618+1429delinsCC
ENST00000632431.1:c.791_792delinsCC	ENSP00000488723.1:p.Ser264=
NM_033409.3:c.791_792delinsCC	NP_212134.3:p.Ser264=
XM_005260655.3:c.791_792delinsCC	XP_005260712.1:p.Ser264=
XM_011529148.1:c.791_792delinsCC	XP_011527450.1:p.Ser264=
XM_005260655.4:c.791_792delinsCC	XP_005260712.1:p.Ser264=
XM_024451821.1:c.791_792delinsCC	XP_024307589.1:p.Ser264=
NM_033409.4:c.791_792delinsCC MANE Select	NP_212134.3:p.Ser264=
NM_001370085.1:c.791_792delinsCC	NP_001357014.1:p.Ser264=
NM_001370086.1:c.791_792delinsCC	NP_001357015.1:p.Ser264=