Canonical Allele Identifier: CA2645198944
Gene: SLC2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929374_42929375insGG , CM000663.2:g.42929374_42929375insGG GRCh38
NC_000001.10:g.43395045_43395046insGG , CM000663.1:g.43395045_43395046insGG GRCh37
NC_000001.9:g.43167632_43167633insGG NCBI36
NG_008232.1:g.34803_34804insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.868-60_868-59insCC MANE Select ENSP00000416293.2:n.868-60_868-59insCC
ENST00000674545.1:n.126_127insCC
ENST00000674765.1:c.868-60_868-59insCC ENSP00000501811.1:n.868-60_868-59insCC
ENST00000675112.1:n.1109_1110insCC
ENST00000676254.1:n.1317-60_1317-59insCC
ENST00000426263.7:c.868-60_868-59insCC ENSP00000416293.2:n.868-60_868-59insCC
ENST00000439722.2:c.747-60_747-59insCC ENSP00000395521.2:n.747-60_747-59insCC
ENST00000475162.3:c.415+1252_415+1253insCC
ENST00000630287.2:c.*183-60_*183-59insCC ENSP00000486694.1:n.*183-60_*183-59insCC
NM_006516.2:c.868-60_868-59insCC NP_006507.2:n.868-60_868-59insCC
NM_006516.3:c.868-60_868-59insCC NP_006507.2:n.868-60_868-59insCC
NM_006516.4:c.868-60_868-59insCC MANE Select NP_006507.2:n.868-60_868-59insCC