Canonical Allele Identifier: CA2695219018

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21428995del , CM000676.2:g.21428995del	GRCh38
NC_000014.8:g.21897154del , CM000676.1:g.21897154del	GRCh37
NC_000014.7:g.20966994del	NCBI36
NG_021249.1:g.13304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.347del	ENSP00000406288.3:p.Ser116Ter
ENST00000553651.2:n.2990del
ENST00000555962.6:c.-111+2816del	ENSP00000495174.1:n.-111+2816del
ENST00000557364.6:c.1184del	ENSP00000451601.1:p.Ser395Ter
ENST00000642518.1:c.347del	ENSP00000496722.1:p.Ser116Ter
ENST00000643048.1:n.1479del
ENST00000643469.1:c.1184del	ENSP00000495070.1:p.Ser395Ter
ENST00000645140.1:c.1096del
ENST00000645929.1:c.347del	ENSP00000494402.1:p.Ser116Ter
ENST00000646063.1:c.1271del	ENSP00000496565.1:p.Ser424Ter
ENST00000646340.1:c.1190del	ENSP00000496730.1:p.Ser397Ter
ENST00000646647.2:c.1184del MANE Select	ENSP00000495240.1:p.Ser395Ter
ENST00000399982.6:c.1184del	ENSP00000382863.2:p.Ser395Ter
ENST00000430710.7:c.347del	ENSP00000406288.3:p.Ser116Ter
ENST00000555962.5:n.150+2816del
ENST00000557364.5:c.1184del	ENSP00000451601.1:p.Ser395Ter
NM_001170629.1:c.1184del	NP_001164100.1:p.Ser395Ter
NM_020920.3:c.347del	NP_065971.2:p.Ser116Ter
NM_001170629.2:c.1184del MANE Select	NP_001164100.1:p.Ser395Ter
NM_020920.4:c.347del	NP_065971.2:p.Ser116Ter