Canonical Allele Identifier: CA2580087840

Gene: CHD8

Linked Data

• ClinVar Variation Id: 2446491
• ClinVar RCV Id: RCV003159321

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21407039_21407056delinsCTTCATGCTTAG , CM000676.2:g.21407039_21407056delinsCTTCATGCTTAG	GRCh38
NC_000014.8:g.21875198_21875215delinsCTTCATGCTTAG , CM000676.1:g.21875198_21875215delinsCTTCATGCTTAG	GRCh37
NC_000014.7:g.20945038_20945055delinsCTTCATGCTTAG	NCBI36
NG_021249.1:g.35243_35260delinsCTAAGCATGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1894-24_1894-7delinsCTAAGCATGAAG	ENSP00000406288.3:n.1894-24_1894-7delinsCTAAGCATGAAG
ENST00000555935.2:c.407-24_407-7delinsCTAAGCATGAAG
ENST00000555962.6:c.-110-4014_-110-3997delinsCTAAGCATGAAG	ENSP00000495174.1:n.-110-4014_-110-3997delinsCTAAGCATGAAG
ENST00000557364.6:c.2731-24_2731-7delinsCTAAGCATGAAG	ENSP00000451601.1:n.2731-24_2731-7delinsCTAAGCATGAAG
ENST00000643469.1:c.2731-24_2731-7delinsCTAAGCATGAAG	ENSP00000495070.1:n.2731-24_2731-7delinsCTAAGCATGAAG
ENST00000645140.1:c.2643-24_2643-7delinsCTAAGCATGAAG
ENST00000645206.1:n.1245-24_1245-7delinsCTAAGCATGAAG
ENST00000645929.1:c.1894-24_1894-7delinsCTAAGCATGAAG	ENSP00000494402.1:n.1894-24_1894-7delinsCTAAGCATGAAG
ENST00000646340.1:c.2737-24_2737-7delinsCTAAGCATGAAG	ENSP00000496730.1:n.2737-24_2737-7delinsCTAAGCATGAAG
ENST00000646647.2:c.2731-24_2731-7delinsCTAAGCATGAAG MANE Select	ENSP00000495240.1:n.2731-24_2731-7delinsCTAAGCATGAAG
ENST00000399982.6:c.2731-24_2731-7delinsCTAAGCATGAAG	ENSP00000382863.2:n.2731-24_2731-7delinsCTAAGCATGAAG
ENST00000430710.7:c.1894-24_1894-7delinsCTAAGCATGAAG	ENSP00000406288.3:n.1894-24_1894-7delinsCTAAGCATGAAG
ENST00000555935.1:c.407-24_407-7delinsCTAAGCATGAAG
ENST00000555962.5:n.151-4014_151-3997delinsCTAAGCATGAAG
ENST00000557364.5:c.2731-24_2731-7delinsCTAAGCATGAAG	ENSP00000451601.1:n.2731-24_2731-7delinsCTAAGCATGAAG
NM_001170629.1:c.2731-24_2731-7delinsCTAAGCATGAAG	NP_001164100.1:n.2731-24_2731-7delinsCTAAGCATGAAG
NM_020920.3:c.1894-24_1894-7delinsCTAAGCATGAAG	NP_065971.2:n.1894-24_1894-7delinsCTAAGCATGAAG
NM_001170629.2:c.2731-24_2731-7delinsCTAAGCATGAAG MANE Select	NP_001164100.1:n.2731-24_2731-7delinsCTAAGCATGAAG
NM_020920.4:c.1894-24_1894-7delinsCTAAGCATGAAG	NP_065971.2:n.1894-24_1894-7delinsCTAAGCATGAAG