Canonical Allele Identifier: CA606183514

Gene: SLC35E3

Linked Data

• dbSNP Id: rs1224884826
• gnomAD v2: 12-69140642-CTT-C
• gnomAD v3: 12-68746862-CTT-C
• gnomAD v4: 12-68746862-CTT-C
• MyVariant Identifiers: chr12:g.69140643_69140644del (hg19) ; chr12:g.68746863_68746864del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746864_68746865del , CM000674.2:g.68746864_68746865del	GRCh38
NC_000012.11:g.69140644_69140645del , CM000674.1:g.69140644_69140645del	GRCh37
NC_000012.10:g.67426911_67426912del	NCBI36
NG_046600.2:g.64914_64915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.645+85_645+86del
ENST00000398004.4:c.402+85_402+86del MANE Select	ENSP00000381089.2:n.402+85_402+86del
ENST00000673712.1:c.402+85_402+86del	ENSP00000501065.1:n.402+85_402+86del
ENST00000674096.1:c.402+85_402+86del	ENSP00000501130.1:n.402+85_402+86del
ENST00000398004.3:c.402+85_402+86del	ENSP00000381089.2:n.402+85_402+86del
NM_018656.2:c.402+85_402+86del	NP_061126.2:n.402+85_402+86del
XM_005269006.2:c.402+85_402+86del	XP_005269063.1:n.402+85_402+86del
NM_001354997.1:c.402+85_402+86del	NP_001341926.1:n.402+85_402+86del
NM_001354998.1:c.402+85_402+86del	NP_001341927.1:n.402+85_402+86del
NM_018656.3:c.402+85_402+86del	NP_061126.2:n.402+85_402+86del
NR_149143.1:n.694+85_694+86del
NR_149144.1:n.694+85_694+86del
NM_001354997.3:c.402+85_402+86del	NP_001341926.1:n.402+85_402+86del
NM_001354998.2:c.402+85_402+86del	NP_001341927.1:n.402+85_402+86del
NM_018656.5:c.402+85_402+86del MANE Select	NP_061126.2:n.402+85_402+86del
NR_149143.3:n.604+85_604+86del
NR_149144.3:n.604+85_604+86del