Canonical Allele Identifier: CA339956232
Gene: SLC2A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.42929204del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929204del , CM000663.2:g.42929204del GRCh38
NC_000001.10:g.43394875del , CM000663.1:g.43394875del GRCh37
NC_000001.9:g.43167462del NCBI36
NG_008232.1:g.34973del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.972+6del MANE Select ENSP00000416293.2:n.972+6del
ENST00000674545.1:n.296del
ENST00000674765.1:c.972+6del ENSP00000501811.1:n.972+6del
ENST00000675112.1:n.1273+6del
ENST00000676254.1:n.1421+6del
ENST00000426263.7:c.972+6del ENSP00000416293.2:n.972+6del
ENST00000439722.2:c.851+6del ENSP00000395521.2:n.851+6del
ENST00000475162.3:c.415+1422del
ENST00000630287.2:c.*287+6del ENSP00000486694.1:n.*287+6del
NM_006516.2:c.972+6del NP_006507.2:n.972+6del
NM_006516.3:c.972+6del NP_006507.2:n.972+6del
NM_006516.4:c.972+6del MANE Select NP_006507.2:n.972+6del