Canonical Allele Identifier: CA2499214719
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1075336
ClinVar RCV Id: RCV001388896
dbSNP Id: rs2124448988
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929703_42929709dup , CM000663.2:g.42929703_42929709dup GRCh38
NC_000001.10:g.43395374_43395380dup , CM000663.1:g.43395374_43395380dup GRCh37
NC_000001.9:g.43167961_43167967dup NCBI36
NG_008232.1:g.34468_34474dup

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.751_757dup MANE Select ENSP00000416293.2:p.Arg253HisfsTer?
ENST00000669445.1:c.81_87dup
ENST00000674765.1:c.751_757dup ENSP00000501811.1:p.Arg253HisfsTer?
ENST00000675112.1:n.774_780dup
ENST00000676254.1:n.1200_1206dup
ENST00000426263.7:c.751_757dup ENSP00000416293.2:p.Arg253HisfsTer?
ENST00000439722.2:c.630_636dup ENSP00000395521.2:n.630_636dup
ENST00000475162.3:c.415+917_415+923dup
ENST00000630287.2:c.*66_*72dup ENSP00000486694.1:n.*66_*72dup
NM_006516.2:c.751_757dup NP_006507.2:p.Arg253HisfsTer?
NM_006516.3:c.751_757dup NP_006507.2:p.Arg253HisfsTer?
NM_006516.4:c.751_757dup MANE Select NP_006507.2:p.Arg253HisfsTer?
Search 100 bp 5'
Search 100 bp 3'