Canonical Allele Identifier: CA2586966535

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929254_42929255insATCCGGT , CM000663.2:g.42929254_42929255insATCCGGT	GRCh38
NC_000001.10:g.43394925_43394926insATCCGGT , CM000663.1:g.43394925_43394926insATCCGGT	GRCh37
NC_000001.9:g.43167512_43167513insATCCGGT	NCBI36
NG_008232.1:g.34925_34926insGGATACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.930_931insGGATACC MANE Select	ENSP00000416293.2:p.Ile311GlyfsTer?
ENST00000674545.1:n.248_249insGGATACC
ENST00000674765.1:c.930_931insGGATACC	ENSP00000501811.1:p.Ile311GlyfsTer?
ENST00000675112.1:n.1231_1232insGGATACC
ENST00000676254.1:n.1379_1380insGGATACC
ENST00000426263.7:c.930_931insGGATACC	ENSP00000416293.2:p.Ile311GlyfsTer?
ENST00000439722.2:c.809_810insGGATACC	ENSP00000395521.2:n.809_810insGGATACC
ENST00000475162.3:c.415+1374_415+1375insGGATACC
ENST00000630287.2:c.*245_*246insGGATACC	ENSP00000486694.1:n.*245_*246insGGATACC
NM_006516.2:c.930_931insGGATACC	NP_006507.2:p.Ile311GlyfsTer?
NM_006516.3:c.930_931insGGATACC	NP_006507.2:p.Ile311GlyfsTer?
NM_006516.4:c.930_931insGGATACC MANE Select	NP_006507.2:p.Ile311GlyfsTer?