Canonical Allele Identifier: CA2743369584
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929514_42929515dup , CM000663.2:g.42929514_42929515dup GRCh38
NC_000001.10:g.43395185_43395186dup , CM000663.1:g.43395185_43395186dup GRCh37
NC_000001.9:g.43167772_43167773dup NCBI36
NG_008232.1:g.34662_34663dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.867+78_867+79dup MANE Select ENSP00000416293.2:n.867+78_867+79dup
ENST00000674765.1:c.867+78_867+79dup ENSP00000501811.1:n.867+78_867+79dup
ENST00000675112.1:n.968_969dup
ENST00000676254.1:n.1316+78_1316+79dup
ENST00000426263.7:c.867+78_867+79dup ENSP00000416293.2:n.867+78_867+79dup
ENST00000439722.2:c.746+78_746+79dup ENSP00000395521.2:n.746+78_746+79dup
ENST00000475162.3:c.415+1111_415+1112dup
ENST00000630287.2:c.*182+78_*182+79dup ENSP00000486694.1:n.*182+78_*182+79dup
NM_006516.2:c.867+78_867+79dup NP_006507.2:n.867+78_867+79dup
NM_006516.3:c.867+78_867+79dup NP_006507.2:n.867+78_867+79dup
NM_006516.4:c.867+78_867+79dup MANE Select NP_006507.2:n.867+78_867+79dup