Canonical Allele Identifier: CA318486
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207223
ClinVar RCV Id: RCV000189390
dbSNP Id: rs796053270
MyVariant Identifiers: chr1:g.43394698del (hg19) chr1:g.42929027del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929027del , CM000663.2:g.42929027del GRCh38
NC_000001.10:g.43394698del , CM000663.1:g.43394698del GRCh37
NC_000001.9:g.43167285del NCBI36
NG_008232.1:g.35150del

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.979del MANE Select ENSP00000416293.2:p.Val327TrpfsTer13
ENST00000674545.1:n.473del
ENST00000674765.1:c.979del ENSP00000501811.1:p.Val327TrpfsTer13
ENST00000675112.1:n.1280del
ENST00000676254.1:n.1428del
ENST00000426263.7:c.979del ENSP00000416293.2:p.Val327TrpfsTer13
ENST00000439722.2:c.858del ENSP00000395521.2:n.858del
ENST00000475162.3:c.415+1599del
ENST00000630287.2:c.*294del ENSP00000486694.1:n.*294del
NM_006516.2:c.979del NP_006507.2:p.Val327TrpfsTer13
NM_006516.3:c.979del NP_006507.2:p.Val327TrpfsTer13
NM_006516.4:c.979del MANE Select NP_006507.2:p.Val327TrpfsTer13
Search 100 bp 5'
Search 100 bp 3'