Canonical Allele Identifier: CA203489
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198542
ClinVar RCV Id: RCV000179917
dbSNP Id: rs80359837
MyVariant Identifiers: chr1:g.43394946dup (hg19) chr1:g.43394946dupC (hg19) chr1:g.43394945_43394946insC (hg19) chr1:g.42929275dupC (hg38) chr1:g.42929274_42929275insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929279dup , CM000663.2:g.42929279dup GRCh38
NC_000001.10:g.43394950dup , CM000663.1:g.43394950dup GRCh37
NC_000001.9:g.43167537dup NCBI36
NG_008232.1:g.34902dup

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.907dup MANE Select ENSP00000416293.2:p.Val303GlyfsTer?
ENST00000674545.1:n.225dup
ENST00000674765.1:c.907dup ENSP00000501811.1:p.Val303GlyfsTer?
ENST00000675112.1:n.1208dup
ENST00000676254.1:n.1356dup
ENST00000426263.7:c.907dup ENSP00000416293.2:p.Val303GlyfsTer?
ENST00000439722.2:c.786dup ENSP00000395521.2:n.786dup
ENST00000475162.3:c.415+1351dup
ENST00000630287.2:c.*222dup ENSP00000486694.1:n.*222dup
NM_006516.2:c.907dup NP_006507.2:p.Val303GlyfsTer?
NM_006516.3:c.907dup NP_006507.2:p.Val303GlyfsTer?
NM_006516.4:c.907dup MANE Select NP_006507.2:p.Val303GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'