Canonical Allele Identifier: CA21251485
Gene: SLC2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929993dup , CM000663.2:g.42929993dup GRCh38
NC_000001.10:g.43395664dup , CM000663.1:g.43395664dup GRCh37
NC_000001.9:g.43168251dup NCBI36
NG_008232.1:g.34187dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.562dup MANE Select ENSP00000416293.2:p.Leu188ProfsTer?
ENST00000674765.1:c.562dup ENSP00000501811.1:p.Leu188ProfsTer?
ENST00000675112.1:n.585dup
ENST00000676254.1:n.1011dup
ENST00000426263.7:c.562dup ENSP00000416293.2:p.Leu188ProfsTer?
ENST00000439722.2:c.441dup ENSP00000395521.2:n.441dup
ENST00000475162.3:c.415+636dup
ENST00000630287.2:c.517-210dup ENSP00000486694.1:n.517-210dup
NM_006516.2:c.562dup NP_006507.2:p.Leu188ProfsTer?
NM_006516.3:c.562dup NP_006507.2:p.Leu188ProfsTer?
NM_006516.4:c.562dup MANE Select NP_006507.2:p.Leu188ProfsTer?
Search 100 bp 5'
Search 100 bp 3'