Canonical Allele Identifier: CA2345347982

Gene: SLC52A3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.760934_760936delinsCTG , CM000682.2:g.760934_760936delinsCTG	GRCh38
NC_000020.10:g.741578_741580delinsCTG , CM000682.1:g.741578_741580delinsCTG	GRCh37
NC_000020.9:g.689578_689580delinsCTG	NCBI36
NG_027687.1:g.12649_12651delinsCAG
NG_027687.2:g.20050_20052delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381944.5:c.*714_*716delinsCAG	ENSP00000371370.3:n.*714_*716delinsCAG
ENST00000473664.2:c.994_996delinsCAG	ENSP00000502741.1:p.Gln332=
ENST00000488495.3:c.*90_*92delinsCAG	ENSP00000494009.1:n.*90_*92delinsCAG
ENST00000645534.1:c.*90_*92delinsCAG MANE Select	ENSP00000494193.1:n.*90_*92delinsCAG
ENST00000217254.11:c.*90_*92delinsCAG	ENSP00000217254.7:n.*90_*92delinsCAG
ENST00000381944.4:c.*714_*716delinsCAG	ENSP00000371370.3:n.*714_*716delinsCAG
ENST00000632431.1:c.*90_*92delinsCAG	ENSP00000488723.1:n.*90_*92delinsCAG
NM_033409.3:c.*90_*92delinsCAG	NP_212134.3:n.*90_*92delinsCAG
XM_005260655.3:c.*90_*92delinsCAG	XP_005260712.1:n.*90_*92delinsCAG
XM_011529148.1:c.*90_*92delinsCAG	XP_011527450.1:n.*90_*92delinsCAG
XM_005260655.4:c.*90_*92delinsCAG	XP_005260712.1:n.*90_*92delinsCAG
XM_024451821.1:c.*90_*92delinsCAG	XP_024307589.1:n.*90_*92delinsCAG
NM_033409.4:c.*90_*92delinsCAG MANE Select	NP_212134.3:n.*90_*92delinsCAG
NM_001370085.1:c.*90_*92delinsCAG	NP_001357014.1:n.*90_*92delinsCAG
NM_001370086.1:c.*90_*92delinsCAG	NP_001357015.1:n.*90_*92delinsCAG