Canonical Allele Identifier: CA948874684

Gene: SLC35E3

Linked Data

• dbSNP Id: rs1878595805
• gnomAD v3: 12-68746769-AGCTCAC-A
• gnomAD v4: 12-68746769-AGCTCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746773_68746778del , CM000674.2:g.68746773_68746778del	GRCh38
NC_000012.11:g.69140553_69140558del , CM000674.1:g.69140553_69140558del	GRCh37
NC_000012.10:g.67426820_67426825del	NCBI36
NG_046600.2:g.64823_64828del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.639_644del
ENST00000398004.4:c.396_401del MANE Select	ENSP00000381089.2:p.Thr133_Leu134del
ENST00000673712.1:c.396_401del	ENSP00000501065.1:p.Thr133_Leu134del
ENST00000674096.1:c.396_401del	ENSP00000501130.1:p.Thr133_Leu134del
ENST00000398004.3:c.396_401del	ENSP00000381089.2:p.Thr133_Leu134del
NM_018656.2:c.396_401del	NP_061126.2:p.Thr133_Leu134del
XM_005269006.2:c.396_401del	XP_005269063.1:p.Thr133_Leu134del
NM_001354997.1:c.396_401del	NP_001341926.1:p.Thr133_Leu134del
NM_001354998.1:c.396_401del	NP_001341927.1:p.Thr133_Leu134del
NM_018656.3:c.396_401del	NP_061126.2:p.Thr133_Leu134del
NR_149143.1:n.688_693del
NR_149144.1:n.688_693del
NM_001354997.3:c.396_401del	NP_001341926.1:p.Thr133_Leu134del
NM_001354998.2:c.396_401del	NP_001341927.1:p.Thr133_Leu134del
NM_018656.5:c.396_401del MANE Select	NP_061126.2:p.Thr133_Leu134del
NR_149143.3:n.598_603del
NR_149144.3:n.598_603del