Canonical Allele Identifier: CA270628

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 144046
• ClinVar RCV Id: RCV000133551 ; RCV000513734
• dbSNP Id: rs587777655
• ExAC: 11:45827852 CCTT / C
• gnomAD v2: 11-45827852-CCTT-C
• gnomAD v3: 11-45806301-CCTT-C
• gnomAD v4: 11-45806301-CCTT-C
• MyVariant Identifiers: chr11:g.45827855_45827857del (hg19) ; chr11:g.45827853_45827855del (hg19) ; chr11:g.45806304_45806306del (hg38) ; chr11:g.45806303_45806305del (hg38) ; chr11:g.45806302_45806304del (hg38)
• PubMed: PMID:23891399 ; PMID:24403049

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806304_45806306del , CM000673.2:g.45806304_45806306del	GRCh38
NC_000011.9:g.45827855_45827857del , CM000673.1:g.45827855_45827857del	GRCh37
NC_000011.8:g.45784431_45784433del	NCBI36
NG_009875.1:g.7233_7235del , LRG_107:g.7233_7235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.464_466del	ENSP00000432145.2:p.Phe155del
ENST00000314134.4:c.503_505del MANE Select	ENSP00000313318.3:p.Phe168del
ENST00000314134.3:c.503_505del	ENSP00000313318.3:p.Phe168del
ENST00000442528.2:c.464_466del	ENSP00000412408.2:p.Phe155del
ENST00000530471.1:c.464_466del	ENSP00000432669.1:p.Phe155del
NM_001145265.1:c.464_466del	NP_001138737.1:p.Phe155del
NM_001145266.1:c.464_466del	NP_001138738.1:p.Phe155del
NM_018389.4:c.503_505del , LRG_107t1:c.503_505del	NP_060859.4:p.Phe168del
XM_011520203.1:c.503_505del	XP_011518505.1:p.Phe168del
XM_011520203.3:c.503_505del	XP_011518505.1:p.Phe168del
NM_001145265.2:c.464_466del	NP_001138737.1:p.Phe155del
NM_018389.5:c.503_505del MANE Select	NP_060859.4:p.Phe168del