Canonical Allele Identifier: CA2838684176

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21429321_21429325del , CM000676.2:g.21429321_21429325del	GRCh38
NC_000014.8:g.21897480_21897484del , CM000676.1:g.21897480_21897484del	GRCh37
NC_000014.7:g.20967320_20967324del	NCBI36
NG_021249.1:g.12975_12979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.18_22del	ENSP00000406288.3:p.Lys6AsnfsTer?
ENST00000553651.2:n.2661_2665del
ENST00000555962.6:c.-111+2487_-111+2491del	ENSP00000495174.1:n.-111+2487_-111+2491del
ENST00000557364.6:c.855_859del	ENSP00000451601.1:p.Lys285AsnfsTer?
ENST00000642518.1:c.18_22del	ENSP00000496722.1:p.Lys6AsnfsTer?
ENST00000643048.1:n.1150_1154del
ENST00000643469.1:c.855_859del	ENSP00000495070.1:p.Lys285AsnfsTer?
ENST00000645140.1:c.767_771del
ENST00000645929.1:c.18_22del	ENSP00000494402.1:p.Lys6AsnfsTer?
ENST00000646063.1:c.942_946del	ENSP00000496565.1:p.Lys314AsnfsTer?
ENST00000646340.1:c.861_865del	ENSP00000496730.1:p.Lys287AsnfsTer?
ENST00000646647.2:c.855_859del MANE Select	ENSP00000495240.1:p.Lys285AsnfsTer?
ENST00000399982.6:c.855_859del	ENSP00000382863.2:p.Lys285AsnfsTer?
ENST00000430710.7:c.18_22del	ENSP00000406288.3:p.Lys6AsnfsTer?
ENST00000553283.1:c.108_112del	ENSP00000450860.1:p.Lys36AsnfsTer?
ENST00000555962.5:n.150+2487_150+2491del
ENST00000557364.5:c.855_859del	ENSP00000451601.1:p.Lys285AsnfsTer?
NM_001170629.1:c.855_859del	NP_001164100.1:p.Lys285AsnfsTer?
NM_020920.3:c.18_22del	NP_065971.2:p.Lys6AsnfsTer?
NM_001170629.2:c.855_859del MANE Select	NP_001164100.1:p.Lys285AsnfsTer?
NM_020920.4:c.18_22del	NP_065971.2:p.Lys6AsnfsTer?