Canonical Allele Identifier: CA16617148

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 419011
• ClinVar RCV Id: RCV002470868 ; RCV003446077
• dbSNP Id: rs80359832
• MyVariant Identifiers: chr1:g.43396306_43396308del (hg19) ; chr1:g.42930635_42930637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930637_42930639del , CM000663.2:g.42930637_42930639del	GRCh38
NC_000001.10:g.43396308_43396310del , CM000663.1:g.43396308_43396310del	GRCh37
NC_000001.9:g.43168895_43168897del	NCBI36
NG_008232.1:g.33540_33542del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.505_507del MANE Select	ENSP00000416293.2:p.Leu169del
ENST00000674765.1:c.505_507del	ENSP00000501811.1:p.Leu169del
ENST00000675112.1:n.528_530del
ENST00000676254.1:n.954_956del
ENST00000426263.7:c.505_507del	ENSP00000416293.2:p.Leu169del
ENST00000439722.2:c.384_386del	ENSP00000395521.2:n.384_386del
ENST00000475162.3:c.404_406del
ENST00000625233.2:n.713_715del
ENST00000630287.2:c.505_507del	ENSP00000486694.1:p.Leu169del
NM_006516.2:c.505_507del	NP_006507.2:p.Leu169del
NM_006516.3:c.505_507del	NP_006507.2:p.Leu169del
NM_006516.4:c.505_507del MANE Select	NP_006507.2:p.Leu169del