Canonical Allele Identifier: CA2619763890

Gene: SLC35E3

Linked Data

• gnomAD v4: 12-68746703-T-TGACCACGC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746704_68746711dup , CM000674.2:g.68746704_68746711dup	GRCh38
NC_000012.11:g.69140484_69140491dup , CM000674.1:g.69140484_69140491dup	GRCh37
NC_000012.10:g.67426751_67426758dup	NCBI36
NG_046600.2:g.64754_64761dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.570_577dup
ENST00000398004.4:c.327_334dup MANE Select	ENSP00000381089.2:p.Pro112ArgfsTer5
ENST00000673712.1:c.327_334dup	ENSP00000501065.1:p.Pro112ArgfsTer5
ENST00000674096.1:c.327_334dup	ENSP00000501130.1:p.Pro112ArgfsTer5
ENST00000398004.3:c.327_334dup	ENSP00000381089.2:p.Pro112ArgfsTer5
NM_018656.2:c.327_334dup	NP_061126.2:p.Pro112ArgfsTer5
XM_005269006.2:c.327_334dup	XP_005269063.1:p.Pro112ArgfsTer5
NM_001354997.1:c.327_334dup	NP_001341926.1:p.Pro112ArgfsTer5
NM_001354998.1:c.327_334dup	NP_001341927.1:p.Pro112ArgfsTer5
NM_018656.3:c.327_334dup	NP_061126.2:p.Pro112ArgfsTer5
NR_149143.1:n.619_626dup
NR_149144.1:n.619_626dup
NM_001354997.3:c.327_334dup	NP_001341926.1:p.Pro112ArgfsTer5
NM_001354998.2:c.327_334dup	NP_001341927.1:p.Pro112ArgfsTer5
NM_018656.5:c.327_334dup MANE Select	NP_061126.2:p.Pro112ArgfsTer5
NR_149143.3:n.529_536dup
NR_149144.3:n.529_536dup