Canonical Allele Identifier: CA430974838

Gene: IDH1

Linked Data

• dbSNP Id: rs1688056732
• gnomAD v3: 2-208248140-G-GTTTGAAAAAAAATGTGTTGAGATGGACGCCTA
• gnomAD v4: 2-208248140-G-GTTTGAAAAAAAATGTGTTGAGATGGACGCCTA
• MyVariant Identifiers: chr2:g.209112864_209112865insTTTGAAAAAAAATGTGTTGAGATGGACGCCTA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208248145_208248176dup , CM000664.2:g.208248145_208248176dup	GRCh38
NC_000002.11:g.209112869_209112900dup , CM000664.1:g.209112869_209112900dup	GRCh37
NC_000002.10:g.208821114_208821145dup	NCBI36
NG_023319.2:g.22903_22934dup , LRG_610:g.22903_22934dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.414+197_414+228dup MANE Select	ENSP00000260985.2:n.414+197_414+228dup
ENST00000345146.6:c.414+197_414+228dup	ENSP00000260985.2:n.414+197_414+228dup
ENST00000415282.5:c.414+197_414+228dup	ENSP00000391075.1:n.414+197_414+228dup
ENST00000415913.5:c.414+197_414+228dup	ENSP00000390265.1:n.414+197_414+228dup
ENST00000446179.5:c.414+197_414+228dup	ENSP00000410513.1:n.414+197_414+228dup
ENST00000462386.5:n.824_855dup
NM_001282386.1:c.414+197_414+228dup , LRG_610t3:c.414+197_414+228dup	NP_001269315.1:n.414+197_414+228dup
NM_001282387.1:c.414+197_414+228dup , LRG_610t2:c.414+197_414+228dup	NP_001269316.1:n.414+197_414+228dup
NM_005896.3:c.414+197_414+228dup , LRG_610t1:c.414+197_414+228dup	NP_005887.2:n.414+197_414+228dup
NM_005896.4:c.414+197_414+228dup MANE Select	NP_005887.2:n.414+197_414+228dup