Canonical Allele Identifier: CA645372412

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 433186
• ClinVar RCV Id: RCV000498692
• dbSNP Id: rs1553156047
• MyVariant Identifiers: chr1:g.43395276_43395287del (hg19) ; chr1:g.42929605_42929616del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929605_42929616del , CM000663.2:g.42929605_42929616del	GRCh38
NC_000001.10:g.43395276_43395287del , CM000663.1:g.43395276_43395287del	GRCh37
NC_000001.9:g.43167863_43167874del	NCBI36
NG_008232.1:g.34561_34572del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.844_855del MANE Select	ENSP00000416293.2:p.Gln282_Ser285del
ENST00000674765.1:c.844_855del	ENSP00000501811.1:p.Gln282_Ser285del
ENST00000675112.1:n.867_878del
ENST00000676254.1:n.1293_1304del
ENST00000426263.7:c.844_855del	ENSP00000416293.2:p.Gln282_Ser285del
ENST00000439722.2:c.723_734del	ENSP00000395521.2:n.723_734del
ENST00000475162.3:c.415+1010_415+1021del
ENST00000630287.2:c.*159_*170del	ENSP00000486694.1:n.*159_*170del
NM_006516.2:c.844_855del	NP_006507.2:p.Gln282_Ser285del
NM_006516.3:c.844_855del	NP_006507.2:p.Gln282_Ser285del
NM_006516.4:c.844_855del MANE Select	NP_006507.2:p.Gln282_Ser285del