Canonical Allele Identifier: CA2522004598
Gene: IDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248002_208248003insTTGTATT , CM000664.2:g.208248002_208248003insTTGTATT GRCh38
NC_000002.11:g.209112726_209112727insTTGTATT , CM000664.1:g.209112726_209112727insTTGTATT GRCh37
NC_000002.10:g.208820971_208820972insTTGTATT NCBI36
NG_023319.2:g.23072_23073insAATACAA , LRG_610:g.23072_23073insAATACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000345146.7:c.414+366_414+367insAATACAA MANE Select ENSP00000260985.2:n.414+366_414+367insAATACAA
ENST00000345146.6:c.414+366_414+367insAATACAA ENSP00000260985.2:n.414+366_414+367insAATACAA
ENST00000415282.5:c.414+366_414+367insAATACAA ENSP00000391075.1:n.414+366_414+367insAATACAA
ENST00000415913.5:c.414+366_414+367insAATACAA ENSP00000390265.1:n.414+366_414+367insAATACAA
ENST00000446179.5:c.414+366_414+367insAATACAA ENSP00000410513.1:n.414+366_414+367insAATACAA
ENST00000462386.5:n.993_994insAATACAA
NM_001282386.1:c.414+366_414+367insAATACAA , LRG_610t3:c.414+366_414+367insAATACAA NP_001269315.1:n.414+366_414+367insAATACAA
NM_001282387.1:c.414+366_414+367insAATACAA , LRG_610t2:c.414+366_414+367insAATACAA NP_001269316.1:n.414+366_414+367insAATACAA
NM_005896.3:c.414+366_414+367insAATACAA , LRG_610t1:c.414+366_414+367insAATACAA NP_005887.2:n.414+366_414+367insAATACAA
NM_005896.4:c.414+366_414+367insAATACAA MANE Select NP_005887.2:n.414+366_414+367insAATACAA