Canonical Allele Identifier: CA2345350301

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765785_765789delinsGCCCT , CM000682.2:g.765785_765789delinsGCCCT	GRCh38
NC_000020.10:g.746429_746433delinsGCCCT , CM000682.1:g.746429_746433delinsGCCCT	GRCh37
NC_000020.9:g.694429_694433delinsGCCCT	NCBI36
NG_027687.1:g.7796_7800delinsAGGGC
NG_027687.2:g.15197_15201delinsAGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.-15_-11delinsAGGGC	ENSP00000371370.3:n.-15_-11delinsAGGGC
ENST00000473664.2:c.-15_-11delinsAGGGC	ENSP00000502741.1:n.-15_-11delinsAGGGC
ENST00000488495.3:c.-15_-11delinsAGGGC	ENSP00000494009.1:n.-15_-11delinsAGGGC
ENST00000645534.1:c.-15_-11delinsAGGGC MANE Select	ENSP00000494193.1:n.-15_-11delinsAGGGC
ENST00000674666.1:c.-15_-11delinsAGGGC	ENSP00000502783.1:n.-15_-11delinsAGGGC
ENST00000675066.1:c.-15_-11delinsAGGGC	ENSP00000501902.1:n.-15_-11delinsAGGGC
ENST00000676154.1:c.-15_-11delinsAGGGC	ENSP00000501807.1:n.-15_-11delinsAGGGC
ENST00000217254.11:c.-15_-11delinsAGGGC	ENSP00000217254.7:n.-15_-11delinsAGGGC
ENST00000381944.4:c.-15_-11delinsAGGGC	ENSP00000371370.3:n.-15_-11delinsAGGGC
ENST00000473664.1:n.37_41delinsAGGGC
ENST00000632431.1:c.-15_-11delinsAGGGC	ENSP00000488723.1:n.-15_-11delinsAGGGC
NM_033409.3:c.-15_-11delinsAGGGC	NP_212134.3:n.-15_-11delinsAGGGC
XM_005260655.3:c.-15_-11delinsAGGGC	XP_005260712.1:n.-15_-11delinsAGGGC
XM_011529148.1:c.-15_-11delinsAGGGC	XP_011527450.1:n.-15_-11delinsAGGGC
XM_005260655.4:c.-15_-11delinsAGGGC	XP_005260712.1:n.-15_-11delinsAGGGC
XM_024451821.1:c.-15_-11delinsAGGGC	XP_024307589.1:n.-15_-11delinsAGGGC
NM_033409.4:c.-15_-11delinsAGGGC MANE Select	NP_212134.3:n.-15_-11delinsAGGGC
NM_001370085.1:c.-15_-11delinsAGGGC	NP_001357014.1:n.-15_-11delinsAGGGC
NM_001370086.1:c.-15_-11delinsAGGGC	NP_001357015.1:n.-15_-11delinsAGGGC