Canonical Allele Identifier: CA2122489152

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415538_21415545delinsTAAATAAA , CM000676.2:g.21415538_21415545delinsTAAATAAA	GRCh38
NC_000014.8:g.21883697_21883704delinsTAAATAAA , CM000676.1:g.21883697_21883704delinsTAAATAAA	GRCh37
NC_000014.7:g.20953537_20953544delinsTAAATAAA	NCBI36
NG_021249.1:g.26754_26761delinsTTTATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+29_1131+36delinsTTTATTTA	ENSP00000406288.3:n.1131+29_1131+36delinsTTTATTTA
ENST00000555962.6:c.-110-12503_-110-12496delinsTTTATTTA	ENSP00000495174.1:n.-110-12503_-110-12496delinsTTTATTTA
ENST00000557364.6:c.1968+29_1968+36delinsTTTATTTA	ENSP00000451601.1:n.1968+29_1968+36delinsTTTATTTA
ENST00000642914.1:n.980_987delinsTTTATTTA
ENST00000643469.1:c.1968+29_1968+36delinsTTTATTTA	ENSP00000495070.1:n.1968+29_1968+36delinsTTTATTTA
ENST00000645140.1:c.1880+29_1880+36delinsTTTATTTA
ENST00000645206.1:n.482+29_482+36delinsTTTATTTA
ENST00000645929.1:c.1131+29_1131+36delinsTTTATTTA	ENSP00000494402.1:n.1131+29_1131+36delinsTTTATTTA
ENST00000646340.1:c.1974+29_1974+36delinsTTTATTTA	ENSP00000496730.1:n.1974+29_1974+36delinsTTTATTTA
ENST00000646647.2:c.1968+29_1968+36delinsTTTATTTA MANE Select	ENSP00000495240.1:n.1968+29_1968+36delinsTTTATTTA
ENST00000399982.6:c.1968+29_1968+36delinsTTTATTTA	ENSP00000382863.2:n.1968+29_1968+36delinsTTTATTTA
ENST00000430710.7:c.1131+29_1131+36delinsTTTATTTA	ENSP00000406288.3:n.1131+29_1131+36delinsTTTATTTA
ENST00000555962.5:n.151-12503_151-12496delinsTTTATTTA
ENST00000557364.5:c.1968+29_1968+36delinsTTTATTTA	ENSP00000451601.1:n.1968+29_1968+36delinsTTTATTTA
NM_001170629.1:c.1968+29_1968+36delinsTTTATTTA	NP_001164100.1:n.1968+29_1968+36delinsTTTATTTA
NM_020920.3:c.1131+29_1131+36delinsTTTATTTA	NP_065971.2:n.1131+29_1131+36delinsTTTATTTA
NM_001170629.2:c.1968+29_1968+36delinsTTTATTTA MANE Select	NP_001164100.1:n.1968+29_1968+36delinsTTTATTTA
NM_020920.4:c.1131+29_1131+36delinsTTTATTTA	NP_065971.2:n.1131+29_1131+36delinsTTTATTTA