Canonical Allele Identifier: CA2586966573

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929973del , CM000663.2:g.42929973del	GRCh38
NC_000001.10:g.43395644del , CM000663.1:g.43395644del	GRCh37
NC_000001.9:g.43168231del	NCBI36
NG_008232.1:g.34204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.579del MANE Select	ENSP00000416293.2:p.Phe194SerfsTer?
ENST00000674765.1:c.579del	ENSP00000501811.1:p.Phe194SerfsTer?
ENST00000675112.1:n.602del
ENST00000676254.1:n.1028del
ENST00000426263.7:c.579del	ENSP00000416293.2:p.Phe194SerfsTer?
ENST00000439722.2:c.458del	ENSP00000395521.2:n.458del
ENST00000475162.3:c.415+653del
ENST00000630287.2:c.517-193del	ENSP00000486694.1:n.517-193del
NM_006516.2:c.579del	NP_006507.2:p.Phe194SerfsTer?
NM_006516.3:c.579del	NP_006507.2:p.Phe194SerfsTer?
NM_006516.4:c.579del MANE Select	NP_006507.2:p.Phe194SerfsTer?