Canonical Allele Identifier: CA2850447205
Gene: IDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248389_208248390delinsTT , CM000664.2:g.208248389_208248390delinsTT GRCh38
NC_000002.11:g.209113113_209113114delinsTT , CM000664.1:g.209113113_209113114delinsTT GRCh37
NC_000002.10:g.208821358_208821359delinsTT NCBI36
NG_023319.2:g.22685_22686delinsAA , LRG_610:g.22685_22686delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000345146.7:c.393_394delinsAA MANE Select ENSP00000260985.2:p.Arg132Ser
ENST00000345146.6:c.393_394delinsAA ENSP00000260985.2:p.Arg132Ser
ENST00000415282.5:c.393_394delinsAA ENSP00000391075.1:p.Arg132Ser
ENST00000415913.5:c.393_394delinsAA ENSP00000390265.1:p.Arg132Ser
ENST00000446179.5:c.393_394delinsAA ENSP00000410513.1:p.Arg132Ser
ENST00000462386.5:n.606_607delinsAA
NM_001282386.1:c.393_394delinsAA , LRG_610t3:c.393_394delinsAA NP_001269315.1:p.Arg132Ser
NM_001282387.1:c.393_394delinsAA , LRG_610t2:c.393_394delinsAA NP_001269316.1:p.Arg132Ser
NM_005896.3:c.393_394delinsAA , LRG_610t1:c.393_394delinsAA NP_005887.2:p.Arg132Ser
NM_005896.4:c.393_394delinsAA MANE Select NP_005887.2:p.Arg132Ser