Canonical Allele Identifier: CA2651547669

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-763660-T-TCATTA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763660_763661insCATTA , CM000682.2:g.763660_763661insCATTA	GRCh38
NC_000020.10:g.744304_744305insCATTA , CM000682.1:g.744304_744305insCATTA	GRCh37
NC_000020.9:g.692304_692305insCATTA	NCBI36
NG_027687.1:g.9924_9925insTAATG
NG_027687.2:g.17325_17326insTAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.910_911insTAATG	ENSP00000371370.3:p.Tyr304LeufsTer?
ENST00000473664.2:c.567+1547_567+1548insTAATG	ENSP00000502741.1:n.567+1547_567+1548insTAATG
ENST00000488495.3:c.910_911insTAATG	ENSP00000494009.1:p.Tyr304LeufsTer?
ENST00000645534.1:c.910_911insTAATG MANE Select	ENSP00000494193.1:p.Tyr304LeufsTer?
ENST00000675066.1:c.910_911insTAATG	ENSP00000501902.1:p.Tyr304LeufsTer?
ENST00000217254.11:c.910_911insTAATG	ENSP00000217254.7:p.Tyr304LeufsTer?
ENST00000381944.4:c.910_911insTAATG	ENSP00000371370.3:p.Tyr304LeufsTer?
ENST00000473664.1:n.618+1547_618+1548insTAATG
ENST00000632431.1:c.910_911insTAATG	ENSP00000488723.1:p.Tyr304LeufsTer?
NM_033409.3:c.910_911insTAATG	NP_212134.3:p.Tyr304LeufsTer?
XM_005260655.3:c.910_911insTAATG	XP_005260712.1:p.Tyr304LeufsTer?
XM_011529148.1:c.910_911insTAATG	XP_011527450.1:p.Tyr304LeufsTer?
XM_005260655.4:c.910_911insTAATG	XP_005260712.1:p.Tyr304LeufsTer?
XM_024451821.1:c.910_911insTAATG	XP_024307589.1:p.Tyr304LeufsTer?
NM_033409.4:c.910_911insTAATG MANE Select	NP_212134.3:p.Tyr304LeufsTer?
NM_001370085.1:c.910_911insTAATG	NP_001357014.1:p.Tyr304LeufsTer?
NM_001370086.1:c.910_911insTAATG	NP_001357015.1:p.Tyr304LeufsTer?