Canonical Allele Identifier: CA2651547665

Gene: SLC52A3

Linked Data

• gnomAD v4: 20-763585-TAGGACAGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.763590_763598del , CM000682.2:g.763590_763598del	GRCh38
NC_000020.10:g.744234_744242del , CM000682.1:g.744234_744242del	GRCh37
NC_000020.9:g.692234_692242del	NCBI36
NG_027687.1:g.9991_9999del
NG_027687.2:g.17392_17400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.977_985del	ENSP00000371370.3:p.Cys326_Ser328del
ENST00000473664.2:c.567+1614_567+1622del	ENSP00000502741.1:n.567+1614_567+1622del
ENST00000488495.3:c.977_985del	ENSP00000494009.1:p.Cys326_Ser328del
ENST00000645534.1:c.977_985del MANE Select	ENSP00000494193.1:p.Cys326_Ser328del
ENST00000675066.1:c.977_985del	ENSP00000501902.1:p.Cys326_Ser328del
ENST00000217254.11:c.977_985del	ENSP00000217254.7:p.Cys326_Ser328del
ENST00000381944.4:c.977_985del	ENSP00000371370.3:p.Cys326_Ser328del
ENST00000473664.1:n.618+1614_618+1622del
ENST00000632431.1:c.977_985del	ENSP00000488723.1:p.Cys326_Ser328del
NM_033409.3:c.977_985del	NP_212134.3:p.Cys326_Ser328del
XM_005260655.3:c.977_985del	XP_005260712.1:p.Cys326_Ser328del
XM_011529148.1:c.977_985del	XP_011527450.1:p.Cys326_Ser328del
XM_005260655.4:c.977_985del	XP_005260712.1:p.Cys326_Ser328del
XM_024451821.1:c.977_985del	XP_024307589.1:p.Cys326_Ser328del
NM_033409.4:c.977_985del MANE Select	NP_212134.3:p.Cys326_Ser328del
NM_001370085.1:c.977_985del	NP_001357014.1:p.Cys326_Ser328del
NM_001370086.1:c.977_985del	NP_001357015.1:p.Cys326_Ser328del