Canonical Allele Identifier: CA2800818508

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393383_21393384insAAACACACCCAACA , CM000676.2:g.21393383_21393384insAAACACACCCAACA	GRCh38
NC_000014.8:g.21861542_21861543insAAACACACCCAACA , CM000676.1:g.21861542_21861543insAAACACACCCAACA	GRCh37
NC_000014.7:g.20931382_20931383insAAACACACCCAACA	NCBI36
NG_021249.1:g.48915_48916insTGTTGGGTGTGTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5482+92_5482+93insTGTTGGGTGTGTTT	ENSP00000406288.3:n.5482+92_5482+93insTGTTGGGTGTGTTT
ENST00000555935.2:c.4019+92_4019+93insTGTTGGGTGTGTTT
ENST00000557364.6:c.6319+92_6319+93insTGTTGGGTGTGTTT	ENSP00000451601.1:n.6319+92_6319+93insTGTTGGGTGTGTTT
ENST00000643469.1:c.6319+92_6319+93insTGTTGGGTGTGTTT	ENSP00000495070.1:n.6319+92_6319+93insTGTTGGGTGTGTTT
ENST00000645206.1:n.5475+92_5475+93insTGTTGGGTGTGTTT
ENST00000645929.1:c.5482+92_5482+93insTGTTGGGTGTGTTT	ENSP00000494402.1:n.5482+92_5482+93insTGTTGGGTGTGTTT
ENST00000646647.2:c.6319+92_6319+93insTGTTGGGTGTGTTT MANE Select	ENSP00000495240.1:n.6319+92_6319+93insTGTTGGGTGTGTTT
ENST00000399982.6:c.6319+92_6319+93insTGTTGGGTGTGTTT	ENSP00000382863.2:n.6319+92_6319+93insTGTTGGGTGTGTTT
ENST00000430710.7:c.5482+92_5482+93insTGTTGGGTGTGTTT	ENSP00000406288.3:n.5482+92_5482+93insTGTTGGGTGTGTTT
ENST00000557364.5:c.6319+92_6319+93insTGTTGGGTGTGTTT	ENSP00000451601.1:n.6319+92_6319+93insTGTTGGGTGTGTTT
NM_001170629.1:c.6319+92_6319+93insTGTTGGGTGTGTTT	NP_001164100.1:n.6319+92_6319+93insTGTTGGGTGTGTTT
NM_020920.3:c.5482+92_5482+93insTGTTGGGTGTGTTT	NP_065971.2:n.5482+92_5482+93insTGTTGGGTGTGTTT
NM_001170629.2:c.6319+92_6319+93insTGTTGGGTGTGTTT MANE Select	NP_001164100.1:n.6319+92_6319+93insTGTTGGGTGTGTTT
NM_020920.4:c.5482+92_5482+93insTGTTGGGTGTGTTT	NP_065971.2:n.5482+92_5482+93insTGTTGGGTGTGTTT