Canonical Allele Identifier: CA704113379
Gene: CHD8 HGNC NCBI

Linked Data

dbSNP Id: rs1268054287

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21415545_21415546insTAAATA , CM000676.2:g.21415545_21415546insTAAATA GRCh38
NC_000014.8:g.21883704_21883705insTAAATA , CM000676.1:g.21883704_21883705insTAAATA GRCh37
NC_000014.7:g.20953544_20953545insTAAATA NCBI36
NG_021249.1:g.26754_26755insATTTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.1131+29_1131+30insATTTAT ENSP00000406288.3:n.1131+29_1131+30insATTTAT
ENST00000555962.6:c.-110-12503_-110-12502insATTTAT ENSP00000495174.1:n.-110-12503_-110-12502insATTTAT
ENST00000557364.6:c.1968+29_1968+30insATTTAT ENSP00000451601.1:n.1968+29_1968+30insATTTAT
ENST00000642914.1:n.980_981insATTTAT
ENST00000643469.1:c.1968+29_1968+30insATTTAT ENSP00000495070.1:n.1968+29_1968+30insATTTAT
ENST00000645140.1:c.1880+29_1880+30insATTTAT
ENST00000645206.1:n.482+29_482+30insATTTAT
ENST00000645929.1:c.1131+29_1131+30insATTTAT ENSP00000494402.1:n.1131+29_1131+30insATTTAT
ENST00000646340.1:c.1974+29_1974+30insATTTAT ENSP00000496730.1:n.1974+29_1974+30insATTTAT
ENST00000646647.2:c.1968+29_1968+30insATTTAT MANE Select ENSP00000495240.1:n.1968+29_1968+30insATTTAT
ENST00000399982.6:c.1968+29_1968+30insATTTAT ENSP00000382863.2:n.1968+29_1968+30insATTTAT
ENST00000430710.7:c.1131+29_1131+30insATTTAT ENSP00000406288.3:n.1131+29_1131+30insATTTAT
ENST00000555962.5:n.151-12503_151-12502insATTTAT
ENST00000557364.5:c.1968+29_1968+30insATTTAT ENSP00000451601.1:n.1968+29_1968+30insATTTAT
NM_001170629.1:c.1968+29_1968+30insATTTAT NP_001164100.1:n.1968+29_1968+30insATTTAT
NM_020920.3:c.1131+29_1131+30insATTTAT NP_065971.2:n.1131+29_1131+30insATTTAT
NM_001170629.2:c.1968+29_1968+30insATTTAT MANE Select NP_001164100.1:n.1968+29_1968+30insATTTAT
NM_020920.4:c.1131+29_1131+30insATTTAT NP_065971.2:n.1131+29_1131+30insATTTAT