Canonical Allele Identifier: CA735971230

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1165373674
• MyVariant Identifiers: chr1:g.43395902_43395903del (hg19) ; chr1:g.42930231_42930232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930233_42930234del , CM000663.2:g.42930233_42930234del	GRCh38
NC_000001.10:g.43395904_43395905del , CM000663.1:g.43395904_43395905del	GRCh37
NC_000001.9:g.43168491_43168492del	NCBI36
NG_008232.1:g.33945_33946del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.517-197_517-196del MANE Select	ENSP00000416293.2:n.517-197_517-196del
ENST00000674765.1:c.517-197_517-196del	ENSP00000501811.1:n.517-197_517-196del
ENST00000675112.1:n.540-197_540-196del
ENST00000676254.1:n.966-197_966-196del
ENST00000426263.7:c.517-197_517-196del	ENSP00000416293.2:n.517-197_517-196del
ENST00000439722.2:c.396-197_396-196del	ENSP00000395521.2:n.396-197_396-196del
ENST00000475162.3:c.415+394_415+395del
ENST00000630287.2:c.516+394_516+395del	ENSP00000486694.1:n.516+394_516+395del
NM_006516.2:c.517-197_517-196del	NP_006507.2:n.517-197_517-196del
NM_006516.3:c.517-197_517-196del	NP_006507.2:n.517-197_517-196del
NM_006516.4:c.517-197_517-196del MANE Select	NP_006507.2:n.517-197_517-196del