Canonical Allele Identifier: CA2645200529
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42930679-CCCCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930681_42930684del , CM000663.2:g.42930681_42930684del GRCh38
NC_000001.10:g.43396352_43396355del , CM000663.1:g.43396352_43396355del GRCh37
NC_000001.9:g.43168939_43168942del NCBI36
NG_008232.1:g.33494_33497del

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.459_462del MANE Select ENSP00000416293.2:p.Gly154ProfsTer?
ENST00000674765.1:c.459_462del ENSP00000501811.1:p.Gly154ProfsTer?
ENST00000675112.1:n.482_485del
ENST00000676254.1:n.908_911del
ENST00000426263.7:c.459_462del ENSP00000416293.2:p.Gly154ProfsTer?
ENST00000439722.2:c.338_341del ENSP00000395521.2:n.338_341del
ENST00000475162.3:c.358_361del
ENST00000625233.2:n.667_670del
ENST00000630287.2:c.459_462del ENSP00000486694.1:p.Gly154ProfsTer27
NM_006516.2:c.459_462del NP_006507.2:p.Gly154ProfsTer?
NM_006516.3:c.459_462del NP_006507.2:p.Gly154ProfsTer?
NM_006516.4:c.459_462del MANE Select NP_006507.2:p.Gly154ProfsTer?
Search 100 bp 5'
Search 100 bp 3'