Canonical Allele Identifier: CA2619763751

Gene: SLC35E3

Linked Data

• gnomAD v4: 12-68746538-CCTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746543_68746546del , CM000674.2:g.68746543_68746546del	GRCh38
NC_000012.11:g.69140323_69140326del , CM000674.1:g.69140323_69140326del	GRCh37
NC_000012.10:g.67426590_67426593del	NCBI36
NG_046600.2:g.64593_64596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.409_412del
ENST00000398004.4:c.166_169del MANE Select	ENSP00000381089.2:p.Leu56AlafsTer?
ENST00000673712.1:c.166_169del	ENSP00000501065.1:p.Leu56AlafsTer?
ENST00000674096.1:c.166_169del	ENSP00000501130.1:p.Leu56AlafsTer?
ENST00000398004.3:c.166_169del	ENSP00000381089.2:p.Leu56AlafsTer?
NM_018656.2:c.166_169del	NP_061126.2:p.Leu56AlafsTer?
XM_005269006.2:c.166_169del	XP_005269063.1:p.Leu56AlafsTer?
NM_001354997.1:c.166_169del	NP_001341926.1:p.Leu56AlafsTer?
NM_001354998.1:c.166_169del	NP_001341927.1:p.Leu56AlafsTer?
NM_018656.3:c.166_169del	NP_061126.2:p.Leu56AlafsTer?
NR_149143.1:n.458_461del
NR_149144.1:n.458_461del
NM_001354997.3:c.166_169del	NP_001341926.1:p.Leu56AlafsTer?
NM_001354998.2:c.166_169del	NP_001341927.1:p.Leu56AlafsTer?
NM_018656.5:c.166_169del MANE Select	NP_061126.2:p.Leu56AlafsTer?
NR_149143.3:n.368_371del
NR_149144.3:n.368_371del