Canonical Allele Identifier: CA2586966537

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929270_42929271insGT , CM000663.2:g.42929270_42929271insGT	GRCh38
NC_000001.10:g.43394941_43394942insGT , CM000663.1:g.43394941_43394942insGT	GRCh37
NC_000001.9:g.43167528_43167529insGT	NCBI36
NG_008232.1:g.34906_34907insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.911_912insAC MANE Select	ENSP00000416293.2:p.Gln305ArgfsTer?
ENST00000674545.1:n.229_230insAC
ENST00000674765.1:c.911_912insAC	ENSP00000501811.1:p.Gln305ArgfsTer?
ENST00000675112.1:n.1212_1213insAC
ENST00000676254.1:n.1360_1361insAC
ENST00000426263.7:c.911_912insAC	ENSP00000416293.2:p.Gln305ArgfsTer?
ENST00000439722.2:c.790_791insAC	ENSP00000395521.2:n.790_791insAC
ENST00000475162.3:c.415+1355_415+1356insAC
ENST00000630287.2:c.*226_*227insAC	ENSP00000486694.1:n.*226_*227insAC
NM_006516.2:c.911_912insAC	NP_006507.2:p.Gln305ArgfsTer?
NM_006516.3:c.911_912insAC	NP_006507.2:p.Gln305ArgfsTer?
NM_006516.4:c.911_912insAC MANE Select	NP_006507.2:p.Gln305ArgfsTer?