Canonical Allele Identifier: CA6678299

Gene: SLC35E3

Linked Data

• dbSNP Id: rs752810114
• ExAC: 12:69140529 A / AACCTTCTCCACCAGAATCCAGCTCACGCTGGTGAGTAGCTTCAGCTT
• gnomAD v2: 12-69140529-A-AACCTTCTCCACCAGAATCCAGCTCACGCTGGTGAGTAGCTTCAGCTT
• gnomAD v3: 12-68746749-A-AACCTTCTCCACCAGAATCCAGCTCACGCTGGTGAGTAGCTTCAGCTT
• gnomAD v4: 12-68746749-A-AACCTTCTCCACCAGAATCCAGCTCACGCTGGTGAGTAGCTTCAGCTT
• MyVariant Identifiers: chr12:g.69140529_69140530insACCTTCTCCACCAGAATCCAGCTCACGCTGGTGAGTAGCTTCAGCTT (hg19) ; chr12:g.68746749_68746750insACCTTCTCCACCAGAATCCAGCTCACGCTGGTGAGTAGCTTCAGCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746750_68746796dup , CM000674.2:g.68746750_68746796dup	GRCh38
NC_000012.11:g.69140530_69140576dup , CM000674.1:g.69140530_69140576dup	GRCh37
NC_000012.10:g.67426797_67426843dup	NCBI36
NG_046600.2:g.64800_64846dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.616_645+17dup
ENST00000398004.4:c.373_402+17dup
ENST00000673712.1:c.373_402+17dup
ENST00000674096.1:c.373_402+17dup
ENST00000398004.3:c.373_402+17dup
NM_018656.2:c.373_402+17dup
XM_005269006.2:c.373_402+17dup
NM_001354997.1:c.373_402+17dup
NM_001354998.1:c.373_402+17dup
NM_018656.3:c.373_402+17dup
NR_149143.1:n.665_694+17dup
NR_149144.1:n.665_694+17dup
NM_001354997.3:c.373_402+17dup
NM_001354998.2:c.373_402+17dup
NM_018656.5:c.373_402+17dup
NR_149143.3:n.575_604+17dup
NR_149144.3:n.575_604+17dup