Canonical Allele Identifier: CA2693665037

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904626-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904630_48904632del , CM000685.2:g.48904630_48904632del	GRCh38
NC_000023.10:g.48761907_48761909del , CM000685.1:g.48761907_48761909del	GRCh37
NC_000023.9:g.48646851_48646853del	NCBI36
NG_015967.1:g.11713_11715del
NG_034300.1:g.12330_12332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1163+117_1163+119del MANE Select	ENSP00000247138.5:n.1163+117_1163+119del
ENST00000247138.10:c.1163+117_1163+119del	ENSP00000247138.5:n.1163+117_1163+119del
ENST00000376515.8:c.618_620del	ENSP00000365698.3:p.Ser207del
ENST00000376521.6:c.*98_*100del	ENSP00000365704.1:n.*98_*100del
ENST00000376529.8:c.573+117_573+119del	ENSP00000365712.3:n.573+117_573+119del
ENST00000413561.7:c.842_844del
ENST00000445167.7:c.690_692del	ENSP00000402726.2:p.Ser231del
ENST00000452555.7:c.*98_*100del	ENSP00000416002.2:n.*98_*100del
ENST00000616181.5:c.*98_*100del	ENSP00000478617.1:n.*98_*100del
ENST00000635285.1:c.*98_*100del	ENSP00000489484.1:n.*98_*100del
ENST00000635460.1:c.425-1164_425-1162del
ENST00000635589.1:c.*98_*100del	ENSP00000489197.1:n.*98_*100del
ENST00000635628.1:c.*1174_*1176del	ENSP00000489613.1:n.*1174_*1176del
NM_001032289.2:c.690_692del	NP_001027460.1:p.Ser231del
NM_001042498.2:c.*98_*100del	NP_001035963.1:n.*98_*100del
NM_001282647.1:c.573+117_573+119del	NP_001269576.1:n.573+117_573+119del
NM_001282648.1:c.618_620del	NP_001269577.1:p.Ser207del
NM_001282649.1:c.*98_*100del	NP_001269578.1:n.*98_*100del
NM_001282650.1:c.*98_*100del	NP_001269579.1:n.*98_*100del
NM_001282651.1:c.*98_*100del	NP_001269580.1:n.*98_*100del
NM_005660.2:c.1163+117_1163+119del	NP_005651.1:n.1163+117_1163+119del
NM_005660.3:c.1163+117_1163+119del MANE Select	NP_005651.1:n.1163+117_1163+119del
NM_001032289.3:c.690_692del	NP_001027460.1:p.Ser231del
NM_001042498.3:c.*98_*100del	NP_001035963.1:n.*98_*100del
NM_001282647.2:c.573+117_573+119del	NP_001269576.1:n.573+117_573+119del
NM_001282649.2:c.*98_*100del	NP_001269578.1:n.*98_*100del
NM_001282650.2:c.*98_*100del	NP_001269579.1:n.*98_*100del
NM_001282651.2:c.*98_*100del	NP_001269580.1:n.*98_*100del
NM_001282648.2:c.618_620del	NP_001269577.1:p.Ser207del