Canonical Allele Identifier: CA634326094

Gene: SLC52A3

Linked Data

• ClinVar Variation Id: 1425010
• ClinVar RCV Id: RCV001957312
• dbSNP Id: rs1383679424
• gnomAD v2: 20-745934-C-CCGGA
• gnomAD v4: 20-765290-C-CCGGA
• MyVariant Identifiers: chr20:g.745934_745935insCGGA (hg19) ; chr20:g.765290_765291insCGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765291_765294dup , CM000682.2:g.765291_765294dup	GRCh38
NC_000020.10:g.745935_745938dup , CM000682.1:g.745935_745938dup	GRCh37
NC_000020.9:g.693935_693938dup	NCBI36
NG_027687.1:g.8291_8294dup
NG_027687.2:g.15692_15695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.481_484dup	ENSP00000371370.3:p.Gly162ValfsTer11
ENST00000473664.2:c.481_484dup	ENSP00000502741.1:p.Gly162ValfsTer11
ENST00000488495.3:c.481_484dup	ENSP00000494009.1:p.Gly162ValfsTer11
ENST00000645534.1:c.481_484dup MANE Select	ENSP00000494193.1:p.Gly162ValfsTer11
ENST00000675066.1:c.481_484dup	ENSP00000501902.1:p.Gly162ValfsTer11
ENST00000676154.1:c.481_484dup	ENSP00000501807.1:p.Gly162ValfsTer11
ENST00000217254.11:c.481_484dup	ENSP00000217254.7:p.Gly162ValfsTer11
ENST00000381944.4:c.481_484dup	ENSP00000371370.3:p.Gly162ValfsTer11
ENST00000473664.1:n.532_535dup
ENST00000632431.1:c.481_484dup	ENSP00000488723.1:p.Gly162ValfsTer11
NM_033409.3:c.481_484dup	NP_212134.3:p.Gly162ValfsTer11
XM_005260655.3:c.481_484dup	XP_005260712.1:p.Gly162ValfsTer11
XM_011529148.1:c.481_484dup	XP_011527450.1:p.Gly162ValfsTer11
XM_005260655.4:c.481_484dup	XP_005260712.1:p.Gly162ValfsTer11
XM_024451821.1:c.481_484dup	XP_024307589.1:p.Gly162ValfsTer11
NM_033409.4:c.481_484dup MANE Select	NP_212134.3:p.Gly162ValfsTer11
NM_001370085.1:c.481_484dup	NP_001357014.1:p.Gly162ValfsTer11
NM_001370086.1:c.481_484dup	NP_001357015.1:p.Gly162ValfsTer11