Canonical Allele Identifier: CA2619763853

Gene: SLC35E3

Linked Data

• gnomAD v4: 12-68746680-C-CACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746682_68746685dup , CM000674.2:g.68746682_68746685dup	GRCh38
NC_000012.11:g.69140462_69140465dup , CM000674.1:g.69140462_69140465dup	GRCh37
NC_000012.10:g.67426729_67426732dup	NCBI36
NG_046600.2:g.64732_64735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.548_551dup
ENST00000398004.4:c.305_308dup MANE Select	ENSP00000381089.2:p.Gln104LeufsTer?
ENST00000673712.1:c.305_308dup	ENSP00000501065.1:p.Gln104LeufsTer?
ENST00000674096.1:c.305_308dup	ENSP00000501130.1:p.Gln104LeufsTer?
ENST00000398004.3:c.305_308dup	ENSP00000381089.2:p.Gln104LeufsTer?
NM_018656.2:c.305_308dup	NP_061126.2:p.Gln104LeufsTer?
XM_005269006.2:c.305_308dup	XP_005269063.1:p.Gln104LeufsTer?
NM_001354997.1:c.305_308dup	NP_001341926.1:p.Gln104LeufsTer?
NM_001354998.1:c.305_308dup	NP_001341927.1:p.Gln104LeufsTer?
NM_018656.3:c.305_308dup	NP_061126.2:p.Gln104LeufsTer?
NR_149143.1:n.597_600dup
NR_149144.1:n.597_600dup
NM_001354997.3:c.305_308dup	NP_001341926.1:p.Gln104LeufsTer?
NM_001354998.2:c.305_308dup	NP_001341927.1:p.Gln104LeufsTer?
NM_018656.5:c.305_308dup MANE Select	NP_061126.2:p.Gln104LeufsTer?
NR_149143.3:n.507_510dup
NR_149144.3:n.507_510dup