Canonical Allele Identifier: CA1014680996

Gene: SLC52A3

Linked Data

• dbSNP Id: rs1986669221
• gnomAD v3: 20-765810-TCAGCCTG-T
• gnomAD v4: 20-765810-TCAGCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.765815_765821del , CM000682.2:g.765815_765821del	GRCh38
NC_000020.10:g.746459_746465del , CM000682.1:g.746459_746465del	GRCh37
NC_000020.9:g.694459_694465del	NCBI36
NG_027687.1:g.7768_7774del
NG_027687.2:g.15169_15175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.-43_-37del	ENSP00000371370.3:n.-43_-37del
ENST00000473664.2:c.-43_-37del	ENSP00000502741.1:n.-43_-37del
ENST00000488495.3:c.-43_-37del	ENSP00000494009.1:n.-43_-37del
ENST00000645534.1:c.-43_-37del MANE Select	ENSP00000494193.1:n.-43_-37del
ENST00000674666.1:c.-43_-37del	ENSP00000502783.1:n.-43_-37del
ENST00000675066.1:c.-43_-37del	ENSP00000501902.1:n.-43_-37del
ENST00000676154.1:c.-43_-37del	ENSP00000501807.1:n.-43_-37del
ENST00000217254.11:c.-43_-37del	ENSP00000217254.7:n.-43_-37del
ENST00000381944.4:c.-43_-37del	ENSP00000371370.3:n.-43_-37del
ENST00000473664.1:n.9_15del
ENST00000632431.1:c.-43_-37del	ENSP00000488723.1:n.-43_-37del
NM_033409.3:c.-43_-37del	NP_212134.3:n.-43_-37del
XM_005260655.3:c.-43_-37del	XP_005260712.1:n.-43_-37del
XM_011529148.1:c.-43_-37del	XP_011527450.1:n.-43_-37del
XM_005260655.4:c.-43_-37del	XP_005260712.1:n.-43_-37del
XM_024451821.1:c.-43_-37del	XP_024307589.1:n.-43_-37del
NM_033409.4:c.-43_-37del MANE Select	NP_212134.3:n.-43_-37del
NM_001370085.1:c.-43_-37del	NP_001357014.1:n.-43_-37del
NM_001370086.1:c.-43_-37del	NP_001357015.1:n.-43_-37del