Canonical Allele Identifier: CA2586966581

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930712_42930713del , CM000663.2:g.42930712_42930713del	GRCh38
NC_000001.10:g.43396383_43396384del , CM000663.1:g.43396383_43396384del	GRCh37
NC_000001.9:g.43168970_43168971del	NCBI36
NG_008232.1:g.33466_33467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.431_432del MANE Select	ENSP00000416293.2:p.Val144GlyfsTer2
ENST00000674765.1:c.431_432del	ENSP00000501811.1:p.Val144GlyfsTer2
ENST00000675112.1:n.454_455del
ENST00000676254.1:n.880_881del
ENST00000372500.4:c.335_336del	ENSP00000361578.4:p.Val112GlyfsTer2
ENST00000426263.7:c.431_432del	ENSP00000416293.2:p.Val144GlyfsTer2
ENST00000439722.2:c.310_311del	ENSP00000395521.2:n.310_311del
ENST00000475162.3:c.330_331del
ENST00000625233.2:n.639_640del
ENST00000630287.2:c.431_432del	ENSP00000486694.1:p.Val144GlyfsTer2
NM_006516.2:c.431_432del	NP_006507.2:p.Val144GlyfsTer2
NM_006516.3:c.431_432del	NP_006507.2:p.Val144GlyfsTer2
NM_006516.4:c.431_432del MANE Select	NP_006507.2:p.Val144GlyfsTer2