Canonical Allele Identifier: CA913189309

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42931160dup , CM000663.2:g.42931160dup	GRCh38
NC_000001.10:g.43396831dup , CM000663.1:g.43396831dup	GRCh37
NC_000001.9:g.43169418dup	NCBI36
NG_008232.1:g.33017dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.161dup MANE Select	NP_006507.2:p.Ser55GlufsTer?
ENST00000426263.10:c.161dup MANE Select	ENSP00000416293.2:p.Ser55GlufsTer?
NM_006516.2:c.161dup	NP_006507.2:p.Ser55GlufsTer?
NM_006516.3:c.161dup	NP_006507.2:p.Ser55GlufsTer?
ENST00000372500.4:c.65dup	ENSP00000361578.4:p.Ser23GlufsTer?
ENST00000415851.6:n.378dup
ENST00000426263.7:c.161dup	ENSP00000416293.2:p.Ser55GlufsTer?
ENST00000475162.3:c.60dup
ENST00000625233.2:n.369dup
ENST00000628173.1:n.507dup
ENST00000630287.2:c.161dup	ENSP00000486694.1:p.Ser55GlufsTer?
ENST00000674765.1:c.161dup	ENSP00000501811.1:p.Ser55GlufsTer?
ENST00000675112.1:n.184dup
ENST00000676254.1:n.610dup