Canonical Allele Identifier: CA2580615664

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 1445972
• ClinVar RCV Id: RCV001992713
• dbSNP Id: rs2134590716

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806269_45806271dup , CM000673.2:g.45806269_45806271dup	GRCh38
NC_000011.9:g.45827820_45827822dup , CM000673.1:g.45827820_45827822dup	GRCh37
NC_000011.8:g.45784396_45784398dup	NCBI36
NG_009875.1:g.7198_7200dup , LRG_107:g.7198_7200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.429_431dup	ENSP00000432145.2:p.Leu144_Ser145insLeu
ENST00000314134.4:c.468_470dup MANE Select	ENSP00000313318.3:p.Leu157_Ser158insLeu
ENST00000314134.3:c.468_470dup	ENSP00000313318.3:p.Leu157_Ser158insLeu
ENST00000442528.2:c.429_431dup	ENSP00000412408.2:p.Leu144_Ser145insLeu
ENST00000530471.1:c.429_431dup	ENSP00000432669.1:p.Leu144_Ser145insLeu
NM_001145265.1:c.429_431dup	NP_001138737.1:p.Leu144_Ser145insLeu
NM_001145266.1:c.429_431dup	NP_001138738.1:p.Leu144_Ser145insLeu
NM_018389.4:c.468_470dup , LRG_107t1:c.468_470dup	NP_060859.4:p.Leu157_Ser158insLeu
XM_011520203.1:c.468_470dup	XP_011518505.1:p.Leu157_Ser158insLeu
XM_011520203.3:c.468_470dup	XP_011518505.1:p.Leu157_Ser158insLeu
NM_001145265.2:c.429_431dup	NP_001138737.1:p.Leu144_Ser145insLeu
NM_018389.5:c.468_470dup MANE Select	NP_060859.4:p.Leu157_Ser158insLeu