Canonical Allele Identifier: CA2619763976

Gene: SLC35E3

Linked Data

• gnomAD v4: 12-68746768-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746769del , CM000674.2:g.68746769del	GRCh38
NC_000012.11:g.69140549del , CM000674.1:g.69140549del	GRCh37
NC_000012.10:g.67426816del	NCBI36
NG_046600.2:g.64819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.635del
ENST00000398004.4:c.392del MANE Select	ENSP00000381089.2:p.Gln131ArgfsTer4
ENST00000673712.1:c.392del	ENSP00000501065.1:p.Gln131ArgfsTer4
ENST00000674096.1:c.392del	ENSP00000501130.1:p.Gln131ArgfsTer10
ENST00000398004.3:c.392del	ENSP00000381089.2:p.Gln131ArgfsTer4
NM_018656.2:c.392del	NP_061126.2:p.Gln131ArgfsTer4
XM_005269006.2:c.392del	XP_005269063.1:p.Gln131ArgfsTer4
NM_001354997.1:c.392del	NP_001341926.1:p.Gln131ArgfsTer6
NM_001354998.1:c.392del	NP_001341927.1:p.Gln131ArgfsTer4
NM_018656.3:c.392del	NP_061126.2:p.Gln131ArgfsTer4
NR_149143.1:n.684del
NR_149144.1:n.684del
NM_001354997.3:c.392del	NP_001341926.1:p.Gln131ArgfsTer6
NM_001354998.2:c.392del	NP_001341927.1:p.Gln131ArgfsTer4
NM_018656.5:c.392del MANE Select	NP_061126.2:p.Gln131ArgfsTer4
NR_149143.3:n.594del
NR_149144.3:n.594del