Canonical Allele Identifier: CA2651547889

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-765486-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765486_765487insC , CM000682.2:g.765486_765487insC	GRCh38
NC_000020.10:g.746130_746131insC , CM000682.1:g.746130_746131insC	GRCh37
NC_000020.9:g.694130_694131insC	NCBI36
NG_027687.1:g.8098_8099insG
NG_027687.2:g.15499_15500insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.288_289insG	ENSP00000371370.3:p.Ser97ValfsTer?
ENST00000473664.2:c.288_289insG	ENSP00000502741.1:p.Ser97ValfsTer?
ENST00000488495.3:c.288_289insG	ENSP00000494009.1:p.Ser97ValfsTer?
ENST00000645534.1:c.288_289insG MANE Select	ENSP00000494193.1:p.Ser97ValfsTer?
ENST00000675066.1:c.288_289insG	ENSP00000501902.1:p.Ser97ValfsTer?
ENST00000676154.1:c.288_289insG	ENSP00000501807.1:p.Ser97ValfsTer?
ENST00000217254.11:c.288_289insG	ENSP00000217254.7:p.Ser97ValfsTer?
ENST00000381944.4:c.288_289insG	ENSP00000371370.3:p.Ser97ValfsTer?
ENST00000473664.1:n.339_340insG
ENST00000632431.1:c.288_289insG	ENSP00000488723.1:p.Ser97ValfsTer?
NM_033409.3:c.288_289insG	NP_212134.3:p.Ser97ValfsTer?
XM_005260655.3:c.288_289insG	XP_005260712.1:p.Ser97ValfsTer?
XM_011529148.1:c.288_289insG	XP_011527450.1:p.Ser97ValfsTer?
XM_005260655.4:c.288_289insG	XP_005260712.1:p.Ser97ValfsTer?
XM_024451821.1:c.288_289insG	XP_024307589.1:p.Ser97ValfsTer?
NM_033409.4:c.288_289insG MANE Select	NP_212134.3:p.Ser97ValfsTer?
NM_001370085.1:c.288_289insG	NP_001357014.1:p.Ser97ValfsTer?
NM_001370086.1:c.288_289insG	NP_001357015.1:p.Ser97ValfsTer?