Canonical Allele Identifier: CA2645199910

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930379-G-GGGGAAGGCGGGCCCTGTGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930380_42930399dup , CM000663.2:g.42930380_42930399dup	GRCh38
NC_000001.10:g.43396051_43396070dup , CM000663.1:g.43396051_43396070dup	GRCh37
NC_000001.9:g.43168638_43168657dup	NCBI36
NG_008232.1:g.33778_33797dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.516+227_516+246dup MANE Select	ENSP00000416293.2:n.516+227_516+246dup
ENST00000674765.1:c.516+227_516+246dup	ENSP00000501811.1:n.516+227_516+246dup
ENST00000675112.1:n.539+227_539+246dup
ENST00000676254.1:n.965+227_965+246dup
ENST00000426263.7:c.516+227_516+246dup	ENSP00000416293.2:n.516+227_516+246dup
ENST00000439722.2:c.395+227_395+246dup	ENSP00000395521.2:n.395+227_395+246dup
ENST00000475162.3:c.415+227_415+246dup
ENST00000625233.2:n.951_970dup
ENST00000630287.2:c.516+227_516+246dup	ENSP00000486694.1:n.516+227_516+246dup
NM_006516.2:c.516+227_516+246dup	NP_006507.2:n.516+227_516+246dup
NM_006516.3:c.516+227_516+246dup	NP_006507.2:n.516+227_516+246dup
NM_006516.4:c.516+227_516+246dup MANE Select	NP_006507.2:n.516+227_516+246dup