Canonical Allele Identifier: CA1139656057

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928979dup , CM000663.2:g.42928979dup	GRCh38
NC_000001.10:g.43394650dup , CM000663.1:g.43394650dup	GRCh37
NC_000001.9:g.43167237dup	NCBI36
NG_008232.1:g.35199dup

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1028dup MANE Select	NP_006507.2:p.Met344HisfsTer?
ENST00000426263.10:c.1028dup MANE Select	ENSP00000416293.2:p.Met344HisfsTer?
NM_006516.2:c.1028dup	NP_006507.2:p.Met344HisfsTer?
NM_006516.3:c.1028dup	NP_006507.2:p.Met344HisfsTer?
ENST00000426263.7:c.1028dup	ENSP00000416293.2:p.Met344HisfsTer?
ENST00000475162.3:c.415+1648dup
ENST00000630287.2:c.*343dup	ENSP00000486694.1:n.*343dup
ENST00000674545.1:n.522dup
ENST00000674765.1:c.1028dup	ENSP00000501811.1:p.Lys344GlnfsTer?
ENST00000675112.1:n.1329dup
ENST00000676254.1:n.1477dup