Canonical Allele Identifier: CA21252470
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42931131_42931132insGGTGGTGAGCGTGGTGGGCAGGA , CM000663.2:g.42931131_42931132insGGTGGTGAGCGTGGTGGGCAGGA GRCh38
NC_000001.10:g.43396802_43396803insGGTGGTGAGCGTGGTGGGCAGGA , CM000663.1:g.43396802_43396803insGGTGGTGAGCGTGGTGGGCAGGA GRCh37
NC_000001.9:g.43169389_43169390insGGTGGTGAGCGTGGTGGGCAGGA NCBI36
NG_008232.1:g.33045_33046insTCCTGCCCACCACGCTCACCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.189_190insTCCTGCCCACCACGCTCACCACC MANE Select ENSP00000416293.2:p.Leu64SerfsTer22
ENST00000674765.1:c.189_190insTCCTGCCCACCACGCTCACCACC ENSP00000501811.1:p.Leu64SerfsTer22
ENST00000675112.1:n.212_213insTCCTGCCCACCACGCTCACCACC
ENST00000676254.1:n.638_639insTCCTGCCCACCACGCTCACCACC
ENST00000372500.4:c.93_94insTCCTGCCCACCACGCTCACCACC ENSP00000361578.4:p.Leu32SerfsTer22
ENST00000415851.6:n.406_407insTCCTGCCCACCACGCTCACCACC
ENST00000426263.7:c.189_190insTCCTGCCCACCACGCTCACCACC ENSP00000416293.2:p.Leu64SerfsTer22
ENST00000475162.3:c.88_89insTCCTGCCCACCACGCTCACCACC
ENST00000625233.2:n.397_398insTCCTGCCCACCACGCTCACCACC
ENST00000630287.2:c.189_190insTCCTGCCCACCACGCTCACCACC ENSP00000486694.1:p.Leu64SerfsTer22
NM_006516.2:c.189_190insTCCTGCCCACCACGCTCACCACC NP_006507.2:p.Leu64SerfsTer22
NM_006516.3:c.189_190insTCCTGCCCACCACGCTCACCACC NP_006507.2:p.Leu64SerfsTer22
NM_006516.4:c.189_190insTCCTGCCCACCACGCTCACCACC MANE Select NP_006507.2:p.Leu64SerfsTer22