Canonical Allele Identifier: CA2580063185

Gene: SLC35D1

Linked Data

• ClinVar Variation Id: 1123
• ClinVar RCV Id: RCV000001182

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67053890del , CM000663.2:g.67053890del	GRCh38
NC_000001.10:g.67519573del , CM000663.1:g.67519573del	GRCh37
NC_000001.9:g.67292161del	NCBI36
NG_012933.1:g.5509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000235345.6:c.125del MANE Select	ENSP00000235345.5:p.Lys42SerfsTer10
ENST00000235345.5:c.125del	ENSP00000235345.5:p.Lys42SerfsTer10
NM_015139.2:c.125del	NP_055954.1:p.Lys42SerfsTer10
XM_006710478.1:c.125del	XP_006710541.1:p.Lys42SerfsTer10
XM_011541070.1:c.125del	XP_011539372.1:p.Lys42SerfsTer10
XM_006710478.2:c.125del	XP_006710541.1:p.Lys42SerfsTer10
XM_011541070.2:c.125del	XP_011539372.1:p.Lys42SerfsTer10
XR_001737057.2:n.535del
XR_001737058.2:n.528del
NM_015139.3:c.125del MANE Select	NP_055954.1:p.Lys42SerfsTer10