Canonical Allele Identifier: CA2580063186

Gene: SLC35D1

Linked Data

• ClinVar Variation Id: 2005679
• ClinVar RCV Id: RCV002825398

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053948_67053954del , CM000663.2:g.67053948_67053954del	GRCh38
NC_000001.10:g.67519631_67519637del , CM000663.1:g.67519631_67519637del	GRCh37
NC_000001.9:g.67292219_67292225del	NCBI36
NG_012933.1:g.5448_5454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.64_70del MANE Select	ENSP00000235345.5:p.Thr22GlufsTer14
ENST00000235345.5:c.64_70del	ENSP00000235345.5:p.Thr22GlufsTer14
NM_015139.2:c.64_70del	NP_055954.1:p.Thr22GlufsTer14
XM_006710478.1:c.64_70del	XP_006710541.1:p.Thr22GlufsTer14
XM_011541070.1:c.64_70del	XP_011539372.1:p.Thr22GlufsTer14
XM_006710478.2:c.64_70del	XP_006710541.1:p.Thr22GlufsTer14
XM_011541070.2:c.64_70del	XP_011539372.1:p.Thr22GlufsTer14
XR_001737057.2:n.474_480del
XR_001737058.2:n.467_473del
NM_015139.3:c.64_70del MANE Select	NP_055954.1:p.Thr22GlufsTer14