Canonical Allele Identifier: CA1165412376

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929720_42929724delinsTCTTC , CM000663.2:g.42929720_42929724delinsTCTTC	GRCh38
NC_000001.10:g.43395391_43395395delinsTCTTC , CM000663.1:g.43395391_43395395delinsTCTTC	GRCh37
NC_000001.9:g.43167978_43167982delinsTCTTC	NCBI36
NG_008232.1:g.34453_34457delinsGAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.736_740delinsGAAGA MANE Select	ENSP00000416293.2:p.Glu246=
ENST00000669445.1:c.66_70delinsGAAGA
ENST00000674765.1:c.736_740delinsGAAGA	ENSP00000501811.1:p.Glu246=
ENST00000675112.1:n.759_763delinsGAAGA
ENST00000676254.1:n.1185_1189delinsGAAGA
ENST00000426263.7:c.736_740delinsGAAGA	ENSP00000416293.2:p.Glu246=
ENST00000439722.2:c.615_619delinsGAAGA	ENSP00000395521.2:n.615_619delinsGAAGA
ENST00000475162.3:c.415+902_415+906delinsGAAGA
ENST00000630287.2:c.*51_*55delinsGAAGA	ENSP00000486694.1:n.*51_*55delinsGAAGA
NM_006516.2:c.736_740delinsGAAGA	NP_006507.2:p.Glu246=
NM_006516.3:c.736_740delinsGAAGA	NP_006507.2:p.Glu246=
NM_006516.4:c.736_740delinsGAAGA MANE Select	NP_006507.2:p.Glu246=