Canonical Allele Identifier: CA2624082512

Gene: CHD8

Linked Data

• gnomAD v4: 14-21409994-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409995del , CM000676.2:g.21409995del	GRCh38
NC_000014.8:g.21878154del , CM000676.1:g.21878154del	GRCh37
NC_000014.7:g.20947994del	NCBI36
NG_021249.1:g.32304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1390-7del	ENSP00000406288.3:n.1390-7del
ENST00000555962.6:c.-110-6953del	ENSP00000495174.1:n.-110-6953del
ENST00000557364.6:c.2227-7del	ENSP00000451601.1:n.2227-7del
ENST00000643469.1:c.2227-7del	ENSP00000495070.1:n.2227-7del
ENST00000645140.1:c.2139-7del
ENST00000645206.1:n.741-7del
ENST00000645929.1:c.1390-7del	ENSP00000494402.1:n.1390-7del
ENST00000646340.1:c.2233-7del	ENSP00000496730.1:n.2233-7del
ENST00000646647.2:c.2227-7del MANE Select	ENSP00000495240.1:n.2227-7del
ENST00000399982.6:c.2227-7del	ENSP00000382863.2:n.2227-7del
ENST00000430710.7:c.1390-7del	ENSP00000406288.3:n.1390-7del
ENST00000554384.1:n.95-7del
ENST00000555962.5:n.151-6953del
ENST00000557364.5:c.2227-7del	ENSP00000451601.1:n.2227-7del
NM_001170629.1:c.2227-7del	NP_001164100.1:n.2227-7del
NM_020920.3:c.1390-7del	NP_065971.2:n.1390-7del
NM_001170629.2:c.2227-7del MANE Select	NP_001164100.1:n.2227-7del
NM_020920.4:c.1390-7del	NP_065971.2:n.1390-7del