Canonical Allele Identifier: CA960916320

Gene: CHD8

Linked Data

• gnomAD v3: 14-21401198-ATGT-A
• gnomAD v4: 14-21401198-ATGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401199_21401201del , CM000676.2:g.21401199_21401201del	GRCh38
NC_000014.8:g.21869358_21869360del , CM000676.1:g.21869358_21869360del	GRCh37
NC_000014.7:g.20939198_20939200del	NCBI36
NG_021249.1:g.41098_41100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3337-130_3337-128del	ENSP00000406288.3:n.3337-130_3337-128del
ENST00000555935.2:c.1850-130_1850-128del
ENST00000555962.6:c.264+756_264+758del	ENSP00000495174.1:n.264+756_264+758del
ENST00000557364.6:c.4174-130_4174-128del	ENSP00000451601.1:n.4174-130_4174-128del
ENST00000643469.1:c.4174-130_4174-128del	ENSP00000495070.1:n.4174-130_4174-128del
ENST00000645206.1:n.2688-130_2688-128del
ENST00000645929.1:c.3337-130_3337-128del	ENSP00000494402.1:n.3337-130_3337-128del
ENST00000646340.1:c.4180-130_4180-128del	ENSP00000496730.1:n.4180-130_4180-128del
ENST00000646558.1:n.728-130_728-128del
ENST00000646647.2:c.4174-130_4174-128del MANE Select	ENSP00000495240.1:n.4174-130_4174-128del
ENST00000399982.6:c.4174-130_4174-128del	ENSP00000382863.2:n.4174-130_4174-128del
ENST00000430710.7:c.3337-130_3337-128del	ENSP00000406288.3:n.3337-130_3337-128del
ENST00000555935.1:c.1850-130_1850-128del
ENST00000555962.5:n.524+756_524+758del
ENST00000557364.5:c.4174-130_4174-128del	ENSP00000451601.1:n.4174-130_4174-128del
NM_001170629.1:c.4174-130_4174-128del	NP_001164100.1:n.4174-130_4174-128del
NM_020920.3:c.3337-130_3337-128del	NP_065971.2:n.3337-130_3337-128del
NM_001170629.2:c.4174-130_4174-128del MANE Select	NP_001164100.1:n.4174-130_4174-128del
NM_020920.4:c.3337-130_3337-128del	NP_065971.2:n.3337-130_3337-128del