Canonical Allele Identifier: CA2624085035

Gene: CHD8

Linked Data

• gnomAD v4: 14-21415530-TAAATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415533_21415537del , CM000676.2:g.21415533_21415537del	GRCh38
NC_000014.8:g.21883692_21883696del , CM000676.1:g.21883692_21883696del	GRCh37
NC_000014.7:g.20953532_20953536del	NCBI36
NG_021249.1:g.26764_26768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+39_1131+43del	ENSP00000406288.3:n.1131+39_1131+43del
ENST00000555962.6:c.-110-12493_-110-12489del	ENSP00000495174.1:n.-110-12493_-110-12489del
ENST00000557364.6:c.1968+39_1968+43del	ENSP00000451601.1:n.1968+39_1968+43del
ENST00000642914.1:n.990_994del
ENST00000643469.1:c.1968+39_1968+43del	ENSP00000495070.1:n.1968+39_1968+43del
ENST00000645140.1:c.1880+39_1880+43del
ENST00000645206.1:n.482+39_482+43del
ENST00000645929.1:c.1131+39_1131+43del	ENSP00000494402.1:n.1131+39_1131+43del
ENST00000646340.1:c.1974+39_1974+43del	ENSP00000496730.1:n.1974+39_1974+43del
ENST00000646647.2:c.1968+39_1968+43del MANE Select	ENSP00000495240.1:n.1968+39_1968+43del
ENST00000399982.6:c.1968+39_1968+43del	ENSP00000382863.2:n.1968+39_1968+43del
ENST00000430710.7:c.1131+39_1131+43del	ENSP00000406288.3:n.1131+39_1131+43del
ENST00000555962.5:n.151-12493_151-12489del
ENST00000557364.5:c.1968+39_1968+43del	ENSP00000451601.1:n.1968+39_1968+43del
NM_001170629.1:c.1968+39_1968+43del	NP_001164100.1:n.1968+39_1968+43del
NM_020920.3:c.1131+39_1131+43del	NP_065971.2:n.1131+39_1131+43del
NM_001170629.2:c.1968+39_1968+43del MANE Select	NP_001164100.1:n.1968+39_1968+43del
NM_020920.4:c.1131+39_1131+43del	NP_065971.2:n.1131+39_1131+43del