Canonical Allele Identifier: CA2428428856

Gene: SLC35A2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905065_48905072delinsCGCCGAAG , CM000685.2:g.48905065_48905072delinsCGCCGAAG	GRCh38
NC_000023.10:g.48762342_48762349delinsCGCCGAAG , CM000685.1:g.48762342_48762349delinsCGCCGAAG	GRCh37
NC_000023.9:g.48647286_48647293delinsCGCCGAAG	NCBI36
NG_015967.1:g.12148_12155delinsCGCCGAAG
NG_034300.1:g.11887_11894delinsCTTCGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247138.11:c.837_844delinsCTTCGGCG MANE Select	ENSP00000247138.5:p.Ala279=
ENST00000247138.10:c.837_844delinsCTTCGGCG	ENSP00000247138.5:p.Ala279=
ENST00000376515.8:c.355-180_355-173delinsCTTCGGCG	ENSP00000365698.3:n.355-180_355-173delinsCTTCGGCG
ENST00000376521.6:c.837_844delinsCTTCGGCG	ENSP00000365704.1:p.Ala279=
ENST00000376529.8:c.427-180_427-173delinsCTTCGGCG	ENSP00000365712.3:n.427-180_427-173delinsCTTCGGCG
ENST00000413561.7:c.399_406delinsCTTCGGCG
ENST00000445167.7:c.427-180_427-173delinsCTTCGGCG	ENSP00000402726.2:n.427-180_427-173delinsCTTCGGCG
ENST00000452555.7:c.921_928delinsCTTCGGCG	ENSP00000416002.2:p.Ala307=
ENST00000616181.5:c.876_883delinsCTTCGGCG	ENSP00000478617.1:p.Ala292=
ENST00000635285.1:c.837_844delinsCTTCGGCG	ENSP00000489484.1:p.Ala279=
ENST00000635460.1:c.424+1320_424+1327delinsCTTCGGCG
ENST00000635589.1:c.654_661delinsCTTCGGCG	ENSP00000489197.1:p.Ala218=
ENST00000635628.1:c.*731_*738delinsCTTCGGCG	ENSP00000489613.1:n.*731_*738delinsCTTCGGCG
NM_001032289.2:c.427-180_427-173delinsCTTCGGCG	NP_001027460.1:n.427-180_427-173delinsCTTCGGCG
NM_001042498.2:c.837_844delinsCTTCGGCG	NP_001035963.1:p.Ala279=
NM_001282647.1:c.427-180_427-173delinsCTTCGGCG	NP_001269576.1:n.427-180_427-173delinsCTTCGGCG
NM_001282648.1:c.355-180_355-173delinsCTTCGGCG	NP_001269577.1:n.355-180_355-173delinsCTTCGGCG
NM_001282649.1:c.654_661delinsCTTCGGCG	NP_001269578.1:p.Ala218=
NM_001282650.1:c.876_883delinsCTTCGGCG	NP_001269579.1:p.Ala292=
NM_001282651.1:c.921_928delinsCTTCGGCG	NP_001269580.1:p.Ala307=
NM_005660.2:c.837_844delinsCTTCGGCG	NP_005651.1:p.Ala279=
NM_005660.3:c.837_844delinsCTTCGGCG MANE Select	NP_005651.1:p.Ala279=
NM_001032289.3:c.427-180_427-173delinsCTTCGGCG	NP_001027460.1:n.427-180_427-173delinsCTTCGGCG
NM_001042498.3:c.837_844delinsCTTCGGCG	NP_001035963.1:p.Ala279=
NM_001282647.2:c.427-180_427-173delinsCTTCGGCG	NP_001269576.1:n.427-180_427-173delinsCTTCGGCG
NM_001282649.2:c.654_661delinsCTTCGGCG	NP_001269578.1:p.Ala218=
NM_001282650.2:c.876_883delinsCTTCGGCG	NP_001269579.1:p.Ala292=
NM_001282651.2:c.921_928delinsCTTCGGCG	NP_001269580.1:p.Ala307=
NM_001282648.2:c.355-180_355-173delinsCTTCGGCG	NP_001269577.1:n.355-180_355-173delinsCTTCGGCG