Canonical Allele Identifier: CA1165412333

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929604_42929616delinsCAGACAGCTGCTG , CM000663.2:g.42929604_42929616delinsCAGACAGCTGCTG	GRCh38
NC_000001.10:g.43395275_43395287delinsCAGACAGCTGCTG , CM000663.1:g.43395275_43395287delinsCAGACAGCTGCTG	GRCh37
NC_000001.9:g.43167862_43167874delinsCAGACAGCTGCTG	NCBI36
NG_008232.1:g.34561_34573delinsCAGCAGCTGTCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.844_856delinsCAGCAGCTGTCTG MANE Select	ENSP00000416293.2:p.Gln282=
ENST00000674765.1:c.844_856delinsCAGCAGCTGTCTG	ENSP00000501811.1:p.Gln282=
ENST00000675112.1:n.867_879delinsCAGCAGCTGTCTG
ENST00000676254.1:n.1293_1305delinsCAGCAGCTGTCTG
ENST00000426263.7:c.844_856delinsCAGCAGCTGTCTG	ENSP00000416293.2:p.Gln282=
ENST00000439722.2:c.723_735delinsCAGCAGCTGTCTG	ENSP00000395521.2:n.723_735delinsCAGCAGCT...
ENST00000475162.3:c.415+1010_415+1022delinsCAGCAGCTGTCTG
ENST00000630287.2:c.*159_*171delinsCAGCAGCTGTCTG	ENSP00000486694.1:n.*159_*171delinsCAGCAG...
NM_006516.2:c.844_856delinsCAGCAGCTGTCTG	NP_006507.2:p.Gln282=
NM_006516.3:c.844_856delinsCAGCAGCTGTCTG	NP_006507.2:p.Gln282=
NM_006516.4:c.844_856delinsCAGCAGCTGTCTG MANE Select	NP_006507.2:p.Gln282=