Canonical Allele Identifier: CA606183510

Gene: SLC35E3

Linked Data

• dbSNP Id: rs1192060023
• gnomAD v2: 12-69140601-ACCT-A
• gnomAD v4: 12-68746821-ACCT-A
• MyVariant Identifiers: chr12:g.69140602_69140604del (hg19) ; chr12:g.68746822_68746824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746825_68746827del , CM000674.2:g.68746825_68746827del	GRCh38
NC_000012.11:g.69140605_69140607del , CM000674.1:g.69140605_69140607del	GRCh37
NC_000012.10:g.67426872_67426874del	NCBI36
NG_046600.2:g.64875_64877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.645+46_645+48del
ENST00000398004.4:c.402+46_402+48del MANE Select	ENSP00000381089.2:n.402+46_402+48del
ENST00000673712.1:c.402+46_402+48del	ENSP00000501065.1:n.402+46_402+48del
ENST00000674096.1:c.402+46_402+48del	ENSP00000501130.1:n.402+46_402+48del
ENST00000398004.3:c.402+46_402+48del	ENSP00000381089.2:n.402+46_402+48del
NM_018656.2:c.402+46_402+48del	NP_061126.2:n.402+46_402+48del
XM_005269006.2:c.402+46_402+48del	XP_005269063.1:n.402+46_402+48del
NM_001354997.1:c.402+46_402+48del	NP_001341926.1:n.402+46_402+48del
NM_001354998.1:c.402+46_402+48del	NP_001341927.1:n.402+46_402+48del
NM_018656.3:c.402+46_402+48del	NP_061126.2:n.402+46_402+48del
NR_149143.1:n.694+46_694+48del
NR_149144.1:n.694+46_694+48del
NM_001354997.3:c.402+46_402+48del	NP_001341926.1:n.402+46_402+48del
NM_001354998.2:c.402+46_402+48del	NP_001341927.1:n.402+46_402+48del
NM_018656.5:c.402+46_402+48del MANE Select	NP_061126.2:n.402+46_402+48del
NR_149143.3:n.604+46_604+48del
NR_149144.3:n.604+46_604+48del