Canonical Allele Identifier: CA915941228
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817922
ClinVar RCV Id: RCV001009153
dbSNP Id: rs1570592655
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929763_42929764insAT , CM000663.2:g.42929763_42929764insAT GRCh38
NC_000001.10:g.43395434_43395435insAT , CM000663.1:g.43395434_43395435insAT GRCh37
NC_000001.9:g.43168021_43168022insAT NCBI36
NG_008232.1:g.34413_34414insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.696_697insAT MANE Select ENSP00000416293.2:p.Gly233MetfsTer6
ENST00000669445.1:c.57-31_57-30insAT
ENST00000674765.1:c.696_697insAT ENSP00000501811.1:p.Gly233MetfsTer6
ENST00000675112.1:n.719_720insAT
ENST00000676254.1:n.1145_1146insAT
ENST00000426263.7:c.696_697insAT ENSP00000416293.2:p.Gly233MetfsTer6
ENST00000439722.2:c.575_576insAT ENSP00000395521.2:n.575_576insAT
ENST00000475162.3:c.415+862_415+863insAT
ENST00000630287.2:c.*11_*12insAT ENSP00000486694.1:n.*11_*12insAT
NM_006516.2:c.696_697insAT NP_006507.2:p.Gly233MetfsTer6
NM_006516.3:c.696_697insAT NP_006507.2:p.Gly233MetfsTer6
NM_006516.4:c.696_697insAT MANE Select NP_006507.2:p.Gly233MetfsTer6
Search 100 bp 5'
Search 100 bp 3'