Canonical Allele Identifier: CA634326095

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1307480203
• gnomAD v2: 20-745951-A-AGCCCAAATAGCTGGGATTACAGGTGCAT
• gnomAD v4: 20-765307-A-AGCCCAAATAGCTGGGATTACAGGTGCAT
• MyVariant Identifiers: chr20:g.745951_745952insGCCCAAATAGCTGGGATTACAGGTGCAT (hg19) ; chr20:g.765307_765308insGCCCAAATAGCTGGGATTACAGGTGCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765310_765311insCAAATAGCTGGGATTACAGGTGCATGCC , CM000682.2:g.765310_765311insCAAATAGCTGGGATTACAGGTGCATGCC	GRCh38
NC_000020.10:g.745954_745955insCAAATAGCTGGGATTACAGGTGCATGCC , CM000682.1:g.745954_745955insCAAATAGCTGGGATTACAGGTGCATGCC	GRCh37
NC_000020.9:g.693954_693955insCAAATAGCTGGGATTACAGGTGCATGCC	NCBI36
NG_027687.1:g.8277_8278insATGCACCTGTAATCCCAGCTATTTGGGC
NG_027687.2:g.15678_15679insATGCACCTGTAATCCCAGCTATTTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000371370.3:p.Leu157CysfsTer24
ENST00000473664.2:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000502741.1:p.Leu157CysfsTer24
ENST00000488495.3:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000494009.1:p.Leu157CysfsTer24
ENST00000645534.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC MANE Select	ENSP00000494193.1:p.Leu157CysfsTer24
ENST00000675066.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000501902.1:p.Leu157CysfsTer24
ENST00000676154.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000501807.1:p.Leu157CysfsTer24
ENST00000217254.11:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000217254.7:p.Leu157CysfsTer24
ENST00000381944.4:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000371370.3:p.Leu157CysfsTer24
ENST00000473664.1:n.518_519insATGCACCTGTAATCCCAGCTATTTGGGC
ENST00000632431.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	ENSP00000488723.1:p.Leu157CysfsTer24
NM_033409.3:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	NP_212134.3:p.Leu157CysfsTer24
XM_005260655.3:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	XP_005260712.1:p.Leu157CysfsTer24
XM_011529148.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	XP_011527450.1:p.Leu157CysfsTer24
XM_005260655.4:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	XP_005260712.1:p.Leu157CysfsTer24
XM_024451821.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	XP_024307589.1:p.Leu157CysfsTer24
NM_033409.4:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC MANE Select	NP_212134.3:p.Leu157CysfsTer24
NM_001370085.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	NP_001357014.1:p.Leu157CysfsTer24
NM_001370086.1:c.467_468insATGCACCTGTAATCCCAGCTATTTGGGC	NP_001357015.1:p.Leu157CysfsTer24