Canonical Allele Identifier: CA2754043511
Gene: IDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208247978_208247979del , CM000664.2:g.208247978_208247979del GRCh38
NC_000002.11:g.209112702_209112703del , CM000664.1:g.209112702_209112703del GRCh37
NC_000002.10:g.208820947_208820948del NCBI36
NG_023319.2:g.23096_23097del , LRG_610:g.23096_23097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000345146.7:c.414+390_414+391del MANE Select ENSP00000260985.2:n.414+390_414+391del
ENST00000345146.6:c.414+390_414+391del ENSP00000260985.2:n.414+390_414+391del
ENST00000415282.5:c.414+390_414+391del ENSP00000391075.1:n.414+390_414+391del
ENST00000415913.5:c.414+390_414+391del ENSP00000390265.1:n.414+390_414+391del
ENST00000446179.5:c.414+390_414+391del ENSP00000410513.1:n.414+390_414+391del
ENST00000462386.5:n.1017_1018del
NM_001282386.1:c.414+390_414+391del , LRG_610t3:c.414+390_414+391del NP_001269315.1:n.414+390_414+391del
NM_001282387.1:c.414+390_414+391del , LRG_610t2:c.414+390_414+391del NP_001269316.1:n.414+390_414+391del
NM_005896.3:c.414+390_414+391del , LRG_610t1:c.414+390_414+391del NP_005887.2:n.414+390_414+391del
NM_005896.4:c.414+390_414+391del MANE Select NP_005887.2:n.414+390_414+391del