Canonical Allele Identifier: CA2662867288

Gene: IDH1

Linked Data

• gnomAD v4: 2-208248125-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208248132_208248133dup , CM000664.2:g.208248132_208248133dup	GRCh38
NC_000002.11:g.209112856_209112857dup , CM000664.1:g.209112856_209112857dup	GRCh37
NC_000002.10:g.208821101_208821102dup	NCBI36
NG_023319.2:g.22948_22949dup , LRG_610:g.22948_22949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.414+242_414+243dup MANE Select	ENSP00000260985.2:n.414+242_414+243dup
ENST00000345146.6:c.414+242_414+243dup	ENSP00000260985.2:n.414+242_414+243dup
ENST00000415282.5:c.414+242_414+243dup	ENSP00000391075.1:n.414+242_414+243dup
ENST00000415913.5:c.414+242_414+243dup	ENSP00000390265.1:n.414+242_414+243dup
ENST00000446179.5:c.414+242_414+243dup	ENSP00000410513.1:n.414+242_414+243dup
ENST00000462386.5:n.869_870dup
NM_001282386.1:c.414+242_414+243dup , LRG_610t3:c.414+242_414+243dup	NP_001269315.1:n.414+242_414+243dup
NM_001282387.1:c.414+242_414+243dup , LRG_610t2:c.414+242_414+243dup	NP_001269316.1:n.414+242_414+243dup
NM_005896.3:c.414+242_414+243dup , LRG_610t1:c.414+242_414+243dup	NP_005887.2:n.414+242_414+243dup
NM_005896.4:c.414+242_414+243dup MANE Select	NP_005887.2:n.414+242_414+243dup