Canonical Allele Identifier: CA2122502589

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405995_21406004delinsGTGATCTGGT , CM000676.2:g.21405995_21406004delinsGTGATCTGGT	GRCh38
NC_000014.8:g.21874154_21874163delinsGTGATCTGGT , CM000676.1:g.21874154_21874163delinsGTGATCTGGT	GRCh37
NC_000014.7:g.20943994_20944003delinsGTGATCTGGT	NCBI36
NG_021249.1:g.36295_36304delinsACCAGATCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-140_2071-131delinsACCAGATCAC	ENSP00000406288.3:n.2071-140_2071-131delinsACCAGATCAC
ENST00000555935.2:c.584-140_584-131delinsACCAGATCAC
ENST00000555962.6:c.-110-2962_-110-2953delinsACCAGATCAC	ENSP00000495174.1:n.-110-2962_-110-2953delinsACCAGATCAC
ENST00000557364.6:c.2908-140_2908-131delinsACCAGATCAC	ENSP00000451601.1:n.2908-140_2908-131delinsACCAGATCAC
ENST00000643469.1:c.2908-140_2908-131delinsACCAGATCAC	ENSP00000495070.1:n.2908-140_2908-131delinsACCAGATCAC
ENST00000645140.1:c.2820-140_2820-131delinsACCAGATCAC
ENST00000645206.1:n.1422-140_1422-131delinsACCAGATCAC
ENST00000645929.1:c.2071-140_2071-131delinsACCAGATCAC	ENSP00000494402.1:n.2071-140_2071-131delinsACCAGATCAC
ENST00000646340.1:c.2914-140_2914-131delinsACCAGATCAC	ENSP00000496730.1:n.2914-140_2914-131delinsACCAGATCAC
ENST00000646647.2:c.2908-140_2908-131delinsACCAGATCAC MANE Select	ENSP00000495240.1:n.2908-140_2908-131delinsACCAGATCAC
ENST00000399982.6:c.2908-140_2908-131delinsACCAGATCAC	ENSP00000382863.2:n.2908-140_2908-131delinsACCAGATCAC
ENST00000430710.7:c.2071-140_2071-131delinsACCAGATCAC	ENSP00000406288.3:n.2071-140_2071-131delinsACCAGATCAC
ENST00000555935.1:c.584-140_584-131delinsACCAGATCAC
ENST00000555962.5:n.151-2962_151-2953delinsACCAGATCAC
ENST00000557364.5:c.2908-140_2908-131delinsACCAGATCAC	ENSP00000451601.1:n.2908-140_2908-131delinsACCAGATCAC
NM_001170629.1:c.2908-140_2908-131delinsACCAGATCAC	NP_001164100.1:n.2908-140_2908-131delinsACCAGATCAC
NM_020920.3:c.2071-140_2071-131delinsACCAGATCAC	NP_065971.2:n.2071-140_2071-131delinsACCAGATCAC
NM_001170629.2:c.2908-140_2908-131delinsACCAGATCAC MANE Select	NP_001164100.1:n.2908-140_2908-131delinsACCAGATCAC
NM_020920.4:c.2071-140_2071-131delinsACCAGATCAC	NP_065971.2:n.2071-140_2071-131delinsACCAGATCAC