Canonical Allele Identifier: CA691332678

Gene: SLC35E3

Linked Data

• dbSNP Id: rs1487214186
• gnomAD v3: 12-68746665-GAAC-G
• gnomAD v4: 12-68746665-GAAC-G
• MyVariant Identifiers: chr12:g.69140446_69140448del (hg19) ; chr12:g.68746666_68746668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746670_68746672del , CM000674.2:g.68746670_68746672del	GRCh38
NC_000012.11:g.69140450_69140452del , CM000674.1:g.69140450_69140452del	GRCh37
NC_000012.10:g.67426717_67426719del	NCBI36
NG_046600.2:g.64720_64722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.536_538del
ENST00000398004.4:c.293_295del MANE Select	ENSP00000381089.2:p.Asn98del
ENST00000673712.1:c.293_295del	ENSP00000501065.1:p.Asn98del
ENST00000674096.1:c.293_295del	ENSP00000501130.1:p.Asn98del
ENST00000398004.3:c.293_295del	ENSP00000381089.2:p.Asn98del
NM_018656.2:c.293_295del	NP_061126.2:p.Asn98del
XM_005269006.2:c.293_295del	XP_005269063.1:p.Asn98del
NM_001354997.1:c.293_295del	NP_001341926.1:p.Asn98del
NM_001354998.1:c.293_295del	NP_001341927.1:p.Asn98del
NM_018656.3:c.293_295del	NP_061126.2:p.Asn98del
NR_149143.1:n.585_587del
NR_149144.1:n.585_587del
NM_001354997.3:c.293_295del	NP_001341926.1:p.Asn98del
NM_001354998.2:c.293_295del	NP_001341927.1:p.Asn98del
NM_018656.5:c.293_295del MANE Select	NP_061126.2:p.Asn98del
NR_149143.3:n.495_497del
NR_149144.3:n.495_497del