Canonical Allele Identifier: CA2739272510

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2855231
• ClinVar RCV Id: RCV003632146

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930667_42930673del , CM000663.2:g.42930667_42930673del	GRCh38
NC_000001.10:g.43396338_43396344del , CM000663.1:g.43396338_43396344del	GRCh37
NC_000001.9:g.43168925_43168931del	NCBI36
NG_008232.1:g.33504_33510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.469_475del MANE Select	ENSP00000416293.2:p.Gly157CysfsTer?
ENST00000674765.1:c.469_475del	ENSP00000501811.1:p.Gly157CysfsTer?
ENST00000675112.1:n.492_498del
ENST00000676254.1:n.918_924del
ENST00000426263.7:c.469_475del	ENSP00000416293.2:p.Gly157CysfsTer?
ENST00000439722.2:c.348_354del	ENSP00000395521.2:n.348_354del
ENST00000475162.3:c.368_374del
ENST00000625233.2:n.677_683del
ENST00000630287.2:c.469_475del	ENSP00000486694.1:p.Gly157CysfsTer23
NM_006516.2:c.469_475del	NP_006507.2:p.Gly157CysfsTer?
NM_006516.3:c.469_475del	NP_006507.2:p.Gly157CysfsTer?
NM_006516.4:c.469_475del MANE Select	NP_006507.2:p.Gly157CysfsTer?