Canonical Allele Identifier: CA2586966561

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929748_42929749del , CM000663.2:g.42929748_42929749del	GRCh38
NC_000001.10:g.43395419_43395420del , CM000663.1:g.43395419_43395420del	GRCh37
NC_000001.9:g.43168006_43168007del	NCBI36
NG_008232.1:g.34428_34429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.711_712del MANE Select	ENSP00000416293.2:p.Thr238ProfsTer2
ENST00000669445.1:c.57-16_57-15del
ENST00000674765.1:c.711_712del	ENSP00000501811.1:p.Thr238ProfsTer2
ENST00000675112.1:n.734_735del
ENST00000676254.1:n.1160_1161del
ENST00000426263.7:c.711_712del	ENSP00000416293.2:p.Thr238ProfsTer2
ENST00000439722.2:c.590_591del	ENSP00000395521.2:n.590_591del
ENST00000475162.3:c.415+877_415+878del
ENST00000630287.2:c.*26_*27del	ENSP00000486694.1:n.*26_*27del
NM_006516.2:c.711_712del	NP_006507.2:p.Thr238ProfsTer2
NM_006516.3:c.711_712del	NP_006507.2:p.Thr238ProfsTer2
NM_006516.4:c.711_712del MANE Select	NP_006507.2:p.Thr238ProfsTer2