Canonical Allele Identifier: CA16616606

Gene: SLC35A2

Linked Data

• ClinVar Variation Id: 412239
• ClinVar RCV Id: RCV000469944
• dbSNP Id: rs1557042824
• MyVariant Identifiers: chrX:g.48762411_48763382del (hg19) ; chrX:g.48905137_48906108del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48905137_48906108del , CM000685.2:g.48905137_48906108del	GRCh38
NC_000023.10:g.48762414_48763385del , CM000685.1:g.48762414_48763385del	GRCh37
NC_000023.9:g.48647358_48648329del	NCBI36
NG_034300.1:g.10854_11825del

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.426+287_775del
ENST00000247138.10:c.426+287_775del
ENST00000376515.8:c.354+287_355-242del	ENSP00000365698.3:n.354+287_355-242del
ENST00000376521.6:c.426+287_775del
ENST00000376529.8:c.426+287_427-242del	ENSP00000365712.3:n.426+287_427-242del
ENST00000413561.7:c.211+287_337del
ENST00000445167.7:c.426+287_427-242del	ENSP00000402726.2:n.426+287_427-242del
ENST00000452555.7:c.510+287_859del
ENST00000616181.5:c.465+287_814del
ENST00000635285.1:c.426+287_775del
ENST00000635460.1:c.424+287_424+1258del
ENST00000635589.1:c.243+287_592del
ENST00000635628.1:c.*320+287_*669del
NM_001032289.2:c.426+287_427-242del	NP_001027460.1:n.426+287_427-242del
NM_001042498.2:c.426+287_775del
NM_001282647.1:c.426+287_427-242del	NP_001269576.1:n.426+287_427-242del
NM_001282648.1:c.354+287_355-242del	NP_001269577.1:n.354+287_355-242del
NM_001282649.1:c.243+287_592del
NM_001282650.1:c.465+287_814del
NM_001282651.1:c.510+287_859del
NM_005660.2:c.426+287_775del
NM_005660.3:c.426+287_775del
NM_001032289.3:c.426+287_427-242del	NP_001027460.1:n.426+287_427-242del
NM_001042498.3:c.426+287_775del
NM_001282647.2:c.426+287_427-242del	NP_001269576.1:n.426+287_427-242del
NM_001282649.2:c.243+287_592del
NM_001282650.2:c.465+287_814del
NM_001282651.2:c.510+287_859del
NM_001282648.2:c.354+287_355-242del	NP_001269577.1:n.354+287_355-242del