Canonical Allele Identifier: CA2586966582

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930751del , CM000663.2:g.42930751del	GRCh38
NC_000001.10:g.43396422del , CM000663.1:g.43396422del	GRCh37
NC_000001.9:g.43169009del	NCBI36
NG_008232.1:g.33426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.391del MANE Select	ENSP00000416293.2:p.Val131CysfsTer5
ENST00000674765.1:c.391del	ENSP00000501811.1:p.Val131CysfsTer5
ENST00000675112.1:n.414del
ENST00000676254.1:n.840del
ENST00000372500.4:c.295del	ENSP00000361578.4:p.Val99CysfsTer5
ENST00000426263.7:c.391del	ENSP00000416293.2:p.Val131CysfsTer5
ENST00000439722.2:c.270del	ENSP00000395521.2:n.270del
ENST00000475162.3:c.290del
ENST00000625233.2:n.599del
ENST00000630287.2:c.391del	ENSP00000486694.1:p.Val131CysfsTer5
NM_006516.2:c.391del	NP_006507.2:p.Val131CysfsTer5
NM_006516.3:c.391del	NP_006507.2:p.Val131CysfsTer5
NM_006516.4:c.391del MANE Select	NP_006507.2:p.Val131CysfsTer5