Canonical Allele Identifier: CA2693659122

Gene: SLC35A2

Linked Data

• gnomAD v4: X-48904794-TGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904796_48904798del , CM000685.2:g.48904796_48904798del	GRCh38
NC_000023.10:g.48762073_48762075del , CM000685.1:g.48762073_48762075del	GRCh37
NC_000023.9:g.48647017_48647019del	NCBI36
NG_015967.1:g.11879_11881del
NG_034300.1:g.12162_12164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.1112_1114del MANE Select	ENSP00000247138.5:p.Pro371del
ENST00000247138.10:c.1112_1114del	ENSP00000247138.5:p.Pro371del
ENST00000376515.8:c.450_452del	ENSP00000365698.3:p.Ala151del
ENST00000376521.6:c.1112_1114del	ENSP00000365704.1:p.Pro371del
ENST00000376529.8:c.522_524del	ENSP00000365712.3:p.Ala175del
ENST00000413561.7:c.674_676del
ENST00000445167.7:c.522_524del	ENSP00000402726.2:p.Ala175del
ENST00000452555.7:c.1196_1198del	ENSP00000416002.2:p.Pro399del
ENST00000616181.5:c.1151_1153del	ENSP00000478617.1:p.Pro384del
ENST00000635285.1:c.1112_1114del	ENSP00000489484.1:p.Pro371del
ENST00000635460.1:c.425-1332_425-1330del
ENST00000635589.1:c.929_931del	ENSP00000489197.1:p.Pro310del
ENST00000635628.1:c.*1006_*1008del	ENSP00000489613.1:n.*1006_*1008del
NM_001032289.2:c.522_524del	NP_001027460.1:p.Ala175del
NM_001042498.2:c.1112_1114del	NP_001035963.1:p.Pro371del
NM_001282647.1:c.522_524del	NP_001269576.1:p.Ala175del
NM_001282648.1:c.450_452del	NP_001269577.1:p.Ala151del
NM_001282649.1:c.929_931del	NP_001269578.1:p.Pro310del
NM_001282650.1:c.1151_1153del	NP_001269579.1:p.Pro384del
NM_001282651.1:c.1196_1198del	NP_001269580.1:p.Pro399del
NM_005660.2:c.1112_1114del	NP_005651.1:p.Pro371del
NM_005660.3:c.1112_1114del MANE Select	NP_005651.1:p.Pro371del
NM_001032289.3:c.522_524del	NP_001027460.1:p.Ala175del
NM_001042498.3:c.1112_1114del	NP_001035963.1:p.Pro371del
NM_001282647.2:c.522_524del	NP_001269576.1:p.Ala175del
NM_001282649.2:c.929_931del	NP_001269578.1:p.Pro310del
NM_001282650.2:c.1151_1153del	NP_001269579.1:p.Pro384del
NM_001282651.2:c.1196_1198del	NP_001269580.1:p.Pro399del
NM_001282648.2:c.450_452del	NP_001269577.1:p.Ala151del