Canonical Allele Identifier: CA1165412363
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929691_42929694delinsCCTT , CM000663.2:g.42929691_42929694delinsCCTT GRCh38
NC_000001.10:g.43395362_43395365delinsCCTT , CM000663.1:g.43395362_43395365delinsCCTT GRCh37
NC_000001.9:g.43167949_43167952delinsCCTT NCBI36
NG_008232.1:g.34483_34486delinsAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.766_769delinsAAGG MANE Select ENSP00000416293.2:p.Lys256=
ENST00000669445.1:c.96_99delinsAAGG
ENST00000674765.1:c.766_769delinsAAGG ENSP00000501811.1:p.Lys256=
ENST00000675112.1:n.789_792delinsAAGG
ENST00000676254.1:n.1215_1218delinsAAGG
ENST00000426263.7:c.766_769delinsAAGG ENSP00000416293.2:p.Lys256=
ENST00000439722.2:c.645_648delinsAAGG ENSP00000395521.2:n.645_648delinsAAGG
ENST00000475162.3:c.415+932_415+935delinsAAGG
ENST00000630287.2:c.*81_*84delinsAAGG ENSP00000486694.1:n.*81_*84delinsAAGG
NM_006516.2:c.766_769delinsAAGG NP_006507.2:p.Lys256=
NM_006516.3:c.766_769delinsAAGG NP_006507.2:p.Lys256=
NM_006516.4:c.766_769delinsAAGG MANE Select NP_006507.2:p.Lys256=