Canonical Allele Identifier: CA6678261

Gene: SLC35E3

Linked Data

• dbSNP Id: rs759374502
• ExAC: 12:69140287 A / AGAG
• MyVariant Identifiers: chr12:g.69140287_69140288insGAG (hg19) ; chr12:g.68746507_68746508insGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746507_68746508insGAG , CM000674.2:g.68746507_68746508insGAG	GRCh38
NC_000012.11:g.69140287_69140288insGAG , CM000674.1:g.69140287_69140288insGAG	GRCh37
NC_000012.10:g.67426554_67426555insGAG	NCBI36
NG_046600.2:g.64557_64558insGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.373_374insGAG
ENST00000398004.4:c.130_131insGAG MANE Select	ENSP00000381089.2:p.Met44delinsArgVal
ENST00000673712.1:c.130_131insGAG	ENSP00000501065.1:p.Met44delinsArgVal
ENST00000674096.1:c.130_131insGAG	ENSP00000501130.1:p.Met44delinsArgVal
ENST00000398004.3:c.130_131insGAG	ENSP00000381089.2:p.Met44delinsArgVal
NM_018656.2:c.130_131insGAG	NP_061126.2:p.Met44delinsArgVal
XM_005269006.2:c.130_131insGAG	XP_005269063.1:p.Met44delinsArgVal
NM_001354997.1:c.130_131insGAG	NP_001341926.1:p.Met44delinsArgVal
NM_001354998.1:c.130_131insGAG	NP_001341927.1:p.Met44delinsArgVal
NM_018656.3:c.130_131insGAG	NP_061126.2:p.Met44delinsArgVal
NR_149143.1:n.422_423insGAG
NR_149144.1:n.422_423insGAG
NM_001354997.3:c.130_131insGAG	NP_001341926.1:p.Met44delinsArgVal
NM_001354998.2:c.130_131insGAG	NP_001341927.1:p.Met44delinsArgVal
NM_018656.5:c.130_131insGAG MANE Select	NP_061126.2:p.Met44delinsArgVal
NR_149143.3:n.332_333insGAG
NR_149144.3:n.332_333insGAG