Canonical Allele Identifier: CA2122483300

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409969_21409970delinsAC , CM000676.2:g.21409969_21409970delinsAC	GRCh38
NC_000014.8:g.21878128_21878129delinsAC , CM000676.1:g.21878128_21878129delinsAC	GRCh37
NC_000014.7:g.20947968_20947969delinsAC	NCBI36
NG_021249.1:g.32329_32330delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1408_1409delinsGT	ENSP00000406288.3:p.Val470=
ENST00000555962.6:c.-110-6928_-110-6927delinsGT	ENSP00000495174.1:n.-110-6928_-110-6927delinsGT
ENST00000557364.6:c.2245_2246delinsGT	ENSP00000451601.1:p.Val749=
ENST00000643469.1:c.2245_2246delinsGT	ENSP00000495070.1:p.Val749=
ENST00000645140.1:c.2157_2158delinsGT
ENST00000645206.1:n.759_760delinsGT
ENST00000645929.1:c.1408_1409delinsGT	ENSP00000494402.1:p.Val470=
ENST00000646340.1:c.2251_2252delinsGT	ENSP00000496730.1:p.Val751=
ENST00000646647.2:c.2245_2246delinsGT MANE Select	ENSP00000495240.1:p.Val749=
ENST00000399982.6:c.2245_2246delinsGT	ENSP00000382863.2:p.Val749=
ENST00000430710.7:c.1408_1409delinsGT	ENSP00000406288.3:p.Val470=
ENST00000554384.1:n.113_114delinsGT
ENST00000555962.5:n.151-6928_151-6927delinsGT
ENST00000557364.5:c.2245_2246delinsGT	ENSP00000451601.1:p.Val749=
NM_001170629.1:c.2245_2246delinsGT	NP_001164100.1:p.Val749=
NM_020920.3:c.1408_1409delinsGT	NP_065971.2:p.Val470=
NM_001170629.2:c.2245_2246delinsGT MANE Select	NP_001164100.1:p.Val749=
NM_020920.4:c.1408_1409delinsGT	NP_065971.2:p.Val470=