Canonical Allele Identifier: CA5958263

Gene: SLC35C1

Linked Data

• dbSNP Id: rs748229792
• ExAC: 11:45827908 CG / C
• gnomAD v2: 11-45827908-CG-C
• gnomAD v3: 11-45806357-CG-C
• gnomAD v4: 11-45806357-CG-C
• MyVariant Identifiers: chr11:g.45827909del (hg19) ; chr11:g.45806358del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806362del , CM000673.2:g.45806362del	GRCh38
NC_000011.9:g.45827913del , CM000673.1:g.45827913del	GRCh37
NC_000011.8:g.45784489del	NCBI36
NG_009875.1:g.7291del , LRG_107:g.7291del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.496+26del	ENSP00000432145.2:n.496+26del
ENST00000314134.4:c.535+26del MANE Select	ENSP00000313318.3:n.535+26del
ENST00000314134.3:c.535+26del	ENSP00000313318.3:n.535+26del
ENST00000442528.2:c.496+26del	ENSP00000412408.2:n.496+26del
NM_001145265.1:c.496+26del	NP_001138737.1:n.496+26del
NM_001145266.1:c.496+26del	NP_001138738.1:n.496+26del
NM_018389.4:c.535+26del , LRG_107t1:c.535+26del	NP_060859.4:n.535+26del
XM_011520203.1:c.535+26del	XP_011518505.1:n.535+26del
XM_011520203.3:c.535+26del	XP_011518505.1:n.535+26del
NM_001145265.2:c.496+26del	NP_001138737.1:n.496+26del
NM_018389.5:c.535+26del MANE Select	NP_060859.4:n.535+26del