Canonical Allele Identifier: CA2586966584

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930762_42930772dup , CM000663.2:g.42930762_42930772dup	GRCh38
NC_000001.10:g.43396433_43396443dup , CM000663.1:g.43396433_43396443dup	GRCh37
NC_000001.9:g.43169020_43169030dup	NCBI36
NG_008232.1:g.33406_33416dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.371_381dup MANE Select	ENSP00000416293.2:p.Ile128TrpfsTer12
ENST00000674765.1:c.371_381dup	ENSP00000501811.1:p.Ile128TrpfsTer12
ENST00000675112.1:n.394_404dup
ENST00000676254.1:n.820_830dup
ENST00000372500.4:c.275_285dup	ENSP00000361578.4:p.Ile96TrpfsTer12
ENST00000426263.7:c.371_381dup	ENSP00000416293.2:p.Ile128TrpfsTer12
ENST00000439722.2:c.250_260dup	ENSP00000395521.2:n.250_260dup
ENST00000475162.3:c.270_280dup
ENST00000625233.2:n.579_589dup
ENST00000630287.2:c.371_381dup	ENSP00000486694.1:p.Ile128TrpfsTer12
NM_006516.2:c.371_381dup	NP_006507.2:p.Ile128TrpfsTer12
NM_006516.3:c.371_381dup	NP_006507.2:p.Ile128TrpfsTer12
NM_006516.4:c.371_381dup MANE Select	NP_006507.2:p.Ile128TrpfsTer12