Canonical Allele Identifier: CA2586966530

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929206_42929209del , CM000663.2:g.42929206_42929209del	GRCh38
NC_000001.10:g.43394877_43394880del , CM000663.1:g.43394877_43394880del	GRCh37
NC_000001.9:g.43167464_43167467del	NCBI36
NG_008232.1:g.34970_34973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+3_972+6del MANE Select	ENSP00000416293.2:n.972+3_972+6del
ENST00000674545.1:n.293_296del
ENST00000674765.1:c.972+3_972+6del	ENSP00000501811.1:n.972+3_972+6del
ENST00000675112.1:n.1273+3_1273+6del
ENST00000676254.1:n.1421+3_1421+6del
ENST00000426263.7:c.972+3_972+6del	ENSP00000416293.2:n.972+3_972+6del
ENST00000439722.2:c.851+3_851+6del	ENSP00000395521.2:n.851+3_851+6del
ENST00000475162.3:c.415+1419_415+1422del
ENST00000630287.2:c.*287+3_*287+6del	ENSP00000486694.1:n.*287+3_*287+6del
NM_006516.2:c.972+3_972+6del	NP_006507.2:n.972+3_972+6del
NM_006516.3:c.972+3_972+6del	NP_006507.2:n.972+3_972+6del
NM_006516.4:c.972+3_972+6del MANE Select	NP_006507.2:n.972+3_972+6del