Canonical Allele Identifier: CA1165412338

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929618_42929632delinsGACAGCTGCAGCACC , CM000663.2:g.42929618_42929632delinsGACAGCTGCAGCACC	GRCh38
NC_000001.10:g.43395289_43395303delinsGACAGCTGCAGCACC , CM000663.1:g.43395289_43395303delinsGACAGCTGCAGCACC	GRCh37
NC_000001.9:g.43167876_43167890delinsGACAGCTGCAGCACC	NCBI36
NG_008232.1:g.34545_34559delinsGGTGCTGCAGCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.828_842delinsGGTGCTGCAGCTGTC MANE Select	ENSP00000416293.2:p.Val276=
ENST00000674765.1:c.828_842delinsGGTGCTGCAGCTGTC	ENSP00000501811.1:p.Val276=
ENST00000675112.1:n.851_865delinsGGTGCTGCAGCTGTC
ENST00000676254.1:n.1277_1291delinsGGTGCTGCAGCTGTC
ENST00000426263.7:c.828_842delinsGGTGCTGCAGCTGTC	ENSP00000416293.2:p.Val276=
ENST00000439722.2:c.707_721delinsGGTGCTGCAGCTGTC	ENSP00000395521.2:n.707_721delinsGGTGCTGCAGCTGTC
ENST00000475162.3:c.415+994_415+1008delinsGGTGCTGCAGCTGTC
ENST00000630287.2:c.*143_*157delinsGGTGCTGCAGCTGTC	ENSP00000486694.1:n.*143_*157delinsGGTGCTGCAGCTGTC
NM_006516.2:c.828_842delinsGGTGCTGCAGCTGTC	NP_006507.2:p.Val276=
NM_006516.3:c.828_842delinsGGTGCTGCAGCTGTC	NP_006507.2:p.Val276=
NM_006516.4:c.828_842delinsGGTGCTGCAGCTGTC MANE Select	NP_006507.2:p.Val276=