Canonical Allele Identifier: CA2839866640

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429339_21429340del , CM000676.2:g.21429339_21429340del	GRCh38
NC_000014.8:g.21897498_21897499del , CM000676.1:g.21897498_21897499del	GRCh37
NC_000014.7:g.20967338_20967339del	NCBI36
NG_021249.1:g.12960_12961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.7-4_7-3del	ENSP00000406288.3:n.7-4_7-3del
ENST00000553651.2:n.2646_2647del
ENST00000555962.6:c.-111+2472_-111+2473del	ENSP00000495174.1:n.-111+2472_-111+2473del
ENST00000557364.6:c.844-4_844-3del	ENSP00000451601.1:n.844-4_844-3del
ENST00000642518.1:c.7-4_7-3del	ENSP00000496722.1:n.7-4_7-3del
ENST00000643048.1:n.1139-4_1139-3del
ENST00000643469.1:c.844-4_844-3del	ENSP00000495070.1:n.844-4_844-3del
ENST00000645140.1:c.756-4_756-3del
ENST00000645929.1:c.7-4_7-3del	ENSP00000494402.1:n.7-4_7-3del
ENST00000646063.1:c.931-4_931-3del	ENSP00000496565.1:n.931-4_931-3del
ENST00000646340.1:c.850-4_850-3del	ENSP00000496730.1:n.850-4_850-3del
ENST00000646647.2:c.844-4_844-3del MANE Select	ENSP00000495240.1:n.844-4_844-3del
ENST00000399982.6:c.844-4_844-3del	ENSP00000382863.2:n.844-4_844-3del
ENST00000430710.7:c.7-4_7-3del	ENSP00000406288.3:n.7-4_7-3del
ENST00000553283.1:c.97-4_97-3del	ENSP00000450860.1:n.97-4_97-3del
ENST00000555962.5:n.150+2472_150+2473del
ENST00000557364.5:c.844-4_844-3del	ENSP00000451601.1:n.844-4_844-3del
NM_001170629.1:c.844-4_844-3del	NP_001164100.1:n.844-4_844-3del
NM_020920.3:c.7-4_7-3del	NP_065971.2:n.7-4_7-3del
NM_001170629.2:c.844-4_844-3del MANE Select	NP_001164100.1:n.844-4_844-3del
NM_020920.4:c.7-4_7-3del	NP_065971.2:n.7-4_7-3del