Canonical Allele Identifier: CA599370744

Gene: SLC35C1

Linked Data

• dbSNP Id: rs1205471943
• gnomAD v2: 11-45827641-T-TG
• gnomAD v3: 11-45806090-T-TG
• gnomAD v4: 11-45806090-T-TG
• MyVariant Identifiers: chr11:g.45827641_45827642insG (hg19) ; chr11:g.45806090_45806091insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806091dup , CM000673.2:g.45806091dup	GRCh38
NC_000011.9:g.45827642dup , CM000673.1:g.45827642dup	GRCh37
NC_000011.8:g.45784218dup	NCBI36
NG_009875.1:g.7020dup , LRG_107:g.7020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.251dup	ENSP00000432145.2:p.Cys84TrpfsTer?
ENST00000314134.4:c.290dup MANE Select	ENSP00000313318.3:p.Cys97TrpfsTer?
ENST00000314134.3:c.290dup	ENSP00000313318.3:p.Cys97TrpfsTer?
ENST00000442528.2:c.251dup	ENSP00000412408.2:p.Cys84TrpfsTer?
ENST00000530471.1:c.251dup	ENSP00000432669.1:p.Cys84TrpfsTer?
NM_001145265.1:c.251dup	NP_001138737.1:p.Cys84TrpfsTer?
NM_001145266.1:c.251dup	NP_001138738.1:p.Cys84TrpfsTer?
NM_018389.4:c.290dup , LRG_107t1:c.290dup	NP_060859.4:p.Cys97TrpfsTer?
XM_011520203.1:c.290dup	XP_011518505.1:p.Cys97TrpfsTer?
XM_011520203.3:c.290dup	XP_011518505.1:p.Cys97TrpfsTer?
NM_001145265.2:c.251dup	NP_001138737.1:p.Cys84TrpfsTer?
NM_018389.5:c.290dup MANE Select	NP_060859.4:p.Cys97TrpfsTer?