Canonical Allele Identifier: CA2586966556

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929720_42929724del , CM000663.2:g.42929720_42929724del	GRCh38
NC_000001.10:g.43395391_43395395del , CM000663.1:g.43395391_43395395del	GRCh37
NC_000001.9:g.43167978_43167982del	NCBI36
NG_008232.1:g.34455_34459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.738_742del MANE Select	ENSP00000416293.2:p.Glu247SerfsTer?
ENST00000669445.1:c.68_72del
ENST00000674765.1:c.738_742del	ENSP00000501811.1:p.Glu247SerfsTer?
ENST00000675112.1:n.761_765del
ENST00000676254.1:n.1187_1191del
ENST00000426263.7:c.738_742del	ENSP00000416293.2:p.Glu247SerfsTer?
ENST00000439722.2:c.617_621del	ENSP00000395521.2:n.617_621del
ENST00000475162.3:c.415+904_415+908del
ENST00000630287.2:c.*53_*57del	ENSP00000486694.1:n.*53_*57del
NM_006516.2:c.738_742del	NP_006507.2:p.Glu247SerfsTer?
NM_006516.3:c.738_742del	NP_006507.2:p.Glu247SerfsTer?
NM_006516.4:c.738_742del MANE Select	NP_006507.2:p.Glu247SerfsTer?