Canonical Allele Identifier: CA2624082285

Gene: CHD8

Linked Data

• gnomAD v4: 14-21409703-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409706del , CM000676.2:g.21409706del	GRCh38
NC_000014.8:g.21877865del , CM000676.1:g.21877865del	GRCh37
NC_000014.7:g.20947705del	NCBI36
NG_021249.1:g.32595del

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1527+147del	ENSP00000406288.3:n.1527+147del
ENST00000555935.2:c.40+147del
ENST00000555962.6:c.-110-6662del	ENSP00000495174.1:n.-110-6662del
ENST00000557364.6:c.2364+147del	ENSP00000451601.1:n.2364+147del
ENST00000643469.1:c.2364+147del	ENSP00000495070.1:n.2364+147del
ENST00000645140.1:c.2276+147del
ENST00000645206.1:n.878+147del
ENST00000645929.1:c.1527+147del	ENSP00000494402.1:n.1527+147del
ENST00000646340.1:c.2370+147del	ENSP00000496730.1:n.2370+147del
ENST00000646647.2:c.2364+147del MANE Select	ENSP00000495240.1:n.2364+147del
ENST00000399982.6:c.2364+147del	ENSP00000382863.2:n.2364+147del
ENST00000430710.7:c.1527+147del	ENSP00000406288.3:n.1527+147del
ENST00000554384.1:n.232+147del
ENST00000555935.1:c.40+147del
ENST00000555962.5:n.151-6662del
ENST00000557364.5:c.2364+147del	ENSP00000451601.1:n.2364+147del
NM_001170629.1:c.2364+147del	NP_001164100.1:n.2364+147del
NM_020920.3:c.1527+147del	NP_065971.2:n.1527+147del
NM_001170629.2:c.2364+147del MANE Select	NP_001164100.1:n.2364+147del
NM_020920.4:c.1527+147del	NP_065971.2:n.1527+147del