Canonical Allele Identifier: CA539389140

Gene: IDH1

Linked Data

• dbSNP Id: rs1352590214
• gnomAD v2: 2-209112943-TAC-T
• gnomAD v3: 2-208248219-TAC-T
• gnomAD v4: 2-208248219-TAC-T
• MyVariant Identifiers: chr2:g.209112944_209112945del (hg19) ; chr2:g.208248220_208248221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208248221_208248222del , CM000664.2:g.208248221_208248222del	GRCh38
NC_000002.11:g.209112945_209112946del , CM000664.1:g.209112945_209112946del	GRCh37
NC_000002.10:g.208821190_208821191del	NCBI36
NG_023319.2:g.22854_22855del , LRG_610:g.22854_22855del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.414+148_414+149del MANE Select	ENSP00000260985.2:n.414+148_414+149del
ENST00000345146.6:c.414+148_414+149del	ENSP00000260985.2:n.414+148_414+149del
ENST00000415282.5:c.414+148_414+149del	ENSP00000391075.1:n.414+148_414+149del
ENST00000415913.5:c.414+148_414+149del	ENSP00000390265.1:n.414+148_414+149del
ENST00000446179.5:c.414+148_414+149del	ENSP00000410513.1:n.414+148_414+149del
ENST00000462386.5:n.775_776del
NM_001282386.1:c.414+148_414+149del , LRG_610t3:c.414+148_414+149del	NP_001269315.1:n.414+148_414+149del
NM_001282387.1:c.414+148_414+149del , LRG_610t2:c.414+148_414+149del	NP_001269316.1:n.414+148_414+149del
NM_005896.3:c.414+148_414+149del , LRG_610t1:c.414+148_414+149del	NP_005887.2:n.414+148_414+149del
NM_005896.4:c.414+148_414+149del MANE Select	NP_005887.2:n.414+148_414+149del