Canonical Allele Identifier: CA704113331

Gene: CHD8

Linked Data

• dbSNP Id: rs34695967
• gnomAD v3: 14-21415506-A-AAAATAAATAAATAAAT
• gnomAD v4: 14-21415506-A-AAAATAAATAAATAAAT
• MyVariant Identifiers: chr14:g.21883665_21883666insAAATAAATAAATAAAT (hg19) ; chr14:g.21415506_21415507insAAATAAATAAATAAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415530_21415545dup , CM000676.2:g.21415530_21415545dup	GRCh38
NC_000014.8:g.21883689_21883704dup , CM000676.1:g.21883689_21883704dup	GRCh37
NC_000014.7:g.20953529_20953544dup	NCBI36
NG_021249.1:g.26777_26792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+52_1131+67dup	ENSP00000406288.3:n.1131+52_1131+67dup
ENST00000555962.6:c.-110-12480_-110-12465dup	ENSP00000495174.1:n.-110-12480_-110-12465dup
ENST00000557364.6:c.1968+52_1968+67dup	ENSP00000451601.1:n.1968+52_1968+67dup
ENST00000642914.1:n.1003_1018dup
ENST00000643469.1:c.1968+52_1968+67dup	ENSP00000495070.1:n.1968+52_1968+67dup
ENST00000645140.1:c.1880+52_1880+67dup
ENST00000645206.1:n.482+52_482+67dup
ENST00000645929.1:c.1131+52_1131+67dup	ENSP00000494402.1:n.1131+52_1131+67dup
ENST00000646340.1:c.1974+52_1974+67dup	ENSP00000496730.1:n.1974+52_1974+67dup
ENST00000646647.2:c.1968+52_1968+67dup MANE Select	ENSP00000495240.1:n.1968+52_1968+67dup
ENST00000399982.6:c.1968+52_1968+67dup	ENSP00000382863.2:n.1968+52_1968+67dup
ENST00000430710.7:c.1131+52_1131+67dup	ENSP00000406288.3:n.1131+52_1131+67dup
ENST00000555962.5:n.151-12480_151-12465dup
ENST00000557364.5:c.1968+52_1968+67dup	ENSP00000451601.1:n.1968+52_1968+67dup
NM_001170629.1:c.1968+52_1968+67dup	NP_001164100.1:n.1968+52_1968+67dup
NM_020920.3:c.1131+52_1131+67dup	NP_065971.2:n.1131+52_1131+67dup
NM_001170629.2:c.1968+52_1968+67dup MANE Select	NP_001164100.1:n.1968+52_1968+67dup
NM_020920.4:c.1131+52_1131+67dup	NP_065971.2:n.1131+52_1131+67dup