Canonical Allele Identifier: CA2122502463

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405886_21405891delinsGAATAA , CM000676.2:g.21405886_21405891delinsGAATAA	GRCh38
NC_000014.8:g.21874045_21874050delinsGAATAA , CM000676.1:g.21874045_21874050delinsGAATAA	GRCh37
NC_000014.7:g.20943885_20943890delinsGAATAA	NCBI36
NG_021249.1:g.36408_36413delinsTTATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-27_2071-22delinsTTATTC	ENSP00000406288.3:n.2071-27_2071-22delinsTTATTC
ENST00000555935.2:c.584-27_584-22delinsTTATTC
ENST00000555962.6:c.-110-2849_-110-2844delinsTTATTC	ENSP00000495174.1:n.-110-2849_-110-2844delinsTTATTC
ENST00000557364.6:c.2908-27_2908-22delinsTTATTC	ENSP00000451601.1:n.2908-27_2908-22delinsTTATTC
ENST00000643469.1:c.2908-27_2908-22delinsTTATTC	ENSP00000495070.1:n.2908-27_2908-22delinsTTATTC
ENST00000645140.1:c.2820-27_2820-22delinsTTATTC
ENST00000645206.1:n.1422-27_1422-22delinsTTATTC
ENST00000645929.1:c.2071-27_2071-22delinsTTATTC	ENSP00000494402.1:n.2071-27_2071-22delinsTTATTC
ENST00000646340.1:c.2914-27_2914-22delinsTTATTC	ENSP00000496730.1:n.2914-27_2914-22delinsTTATTC
ENST00000646647.2:c.2908-27_2908-22delinsTTATTC MANE Select	ENSP00000495240.1:n.2908-27_2908-22delinsTTATTC
ENST00000399982.6:c.2908-27_2908-22delinsTTATTC	ENSP00000382863.2:n.2908-27_2908-22delinsTTATTC
ENST00000430710.7:c.2071-27_2071-22delinsTTATTC	ENSP00000406288.3:n.2071-27_2071-22delinsTTATTC
ENST00000555935.1:c.584-27_584-22delinsTTATTC
ENST00000555962.5:n.151-2849_151-2844delinsTTATTC
ENST00000557364.5:c.2908-27_2908-22delinsTTATTC	ENSP00000451601.1:n.2908-27_2908-22delinsTTATTC
NM_001170629.1:c.2908-27_2908-22delinsTTATTC	NP_001164100.1:n.2908-27_2908-22delinsTTATTC
NM_020920.3:c.2071-27_2071-22delinsTTATTC	NP_065971.2:n.2071-27_2071-22delinsTTATTC
NM_001170629.2:c.2908-27_2908-22delinsTTATTC MANE Select	NP_001164100.1:n.2908-27_2908-22delinsTTATTC
NM_020920.4:c.2071-27_2071-22delinsTTATTC	NP_065971.2:n.2071-27_2071-22delinsTTATTC