Canonical Allele Identifier: CA2586966481
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927725del , CM000663.2:g.42927725del GRCh38
NC_000001.10:g.43393396del , CM000663.1:g.43393396del GRCh37
NC_000001.9:g.43165983del NCBI36
NG_008232.1:g.36454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1160del MANE Select ENSP00000416293.2:p.Pro387HisfsTer?
ENST00000674545.1:n.1777del
ENST00000674765.1:c.1030-866del ENSP00000501811.1:n.1030-866del
ENST00000675112.1:n.1461del
ENST00000676254.1:n.1609del
ENST00000426263.7:c.1160del ENSP00000416293.2:p.Pro387HisfsTer?
ENST00000475162.3:c.416-745del
ENST00000630287.2:c.*475del ENSP00000486694.1:n.*475del
NM_006516.2:c.1160del NP_006507.2:p.Pro387HisfsTer?
NM_006516.3:c.1160del NP_006507.2:p.Pro387HisfsTer?
NM_006516.4:c.1160del MANE Select NP_006507.2:p.Pro387HisfsTer?