Canonical Allele Identifier: CA2739272508
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2842321
ClinVar RCV Id: RCV003631998
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929986del , CM000663.2:g.42929986del GRCh38
NC_000001.10:g.43395657del , CM000663.1:g.43395657del GRCh37
NC_000001.9:g.43168244del NCBI36
NG_008232.1:g.34191del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.566del MANE Select ENSP00000416293.2:p.Leu189ArgfsTer2
ENST00000674765.1:c.566del ENSP00000501811.1:p.Leu189ArgfsTer2
ENST00000675112.1:n.589del
ENST00000676254.1:n.1015del
ENST00000426263.7:c.566del ENSP00000416293.2:p.Leu189ArgfsTer2
ENST00000439722.2:c.445del ENSP00000395521.2:n.445del
ENST00000475162.3:c.415+640del
ENST00000630287.2:c.517-206del ENSP00000486694.1:n.517-206del
NM_006516.2:c.566del NP_006507.2:p.Leu189ArgfsTer2
NM_006516.3:c.566del NP_006507.2:p.Leu189ArgfsTer2
NM_006516.4:c.566del MANE Select NP_006507.2:p.Leu189ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'