Canonical Allele Identifier: CA2695219085

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21400540_21400550dup , CM000676.2:g.21400540_21400550dup	GRCh38
NC_000014.8:g.21868699_21868709dup , CM000676.1:g.21868699_21868709dup	GRCh37
NC_000014.7:g.20938539_20938549dup	NCBI36
NG_021249.1:g.41751_41761dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3598_3608dup	ENSP00000406288.3:p.Ile1203MetfsTer30
ENST00000555935.2:c.2111_2121dup
ENST00000555962.6:c.265-241_265-231dup	ENSP00000495174.1:n.265-241_265-231dup
ENST00000557364.6:c.4435_4445dup	ENSP00000451601.1:p.Ile1482MetfsTer30
ENST00000643469.1:c.4435_4445dup	ENSP00000495070.1:p.Ile1482MetfsTer30
ENST00000645206.1:n.2949_2959dup
ENST00000645929.1:c.3598_3608dup	ENSP00000494402.1:p.Ile1203MetfsTer30
ENST00000646340.1:c.4441_4451dup	ENSP00000496730.1:p.Ile1484MetfsTer30
ENST00000646558.1:n.1251_1261dup
ENST00000646647.2:c.4435_4445dup MANE Select	ENSP00000495240.1:p.Ile1482MetfsTer30
ENST00000399982.6:c.4435_4445dup	ENSP00000382863.2:p.Ile1482MetfsTer30
ENST00000430710.7:c.3598_3608dup	ENSP00000406288.3:p.Ile1203MetfsTer30
ENST00000555935.1:c.2111_2121dup
ENST00000555962.5:n.525-241_525-231dup
ENST00000557364.5:c.4435_4445dup	ENSP00000451601.1:p.Ile1482MetfsTer30
NM_001170629.1:c.4435_4445dup	NP_001164100.1:p.Ile1482MetfsTer30
NM_020920.3:c.3598_3608dup	NP_065971.2:p.Ile1203MetfsTer30
NM_001170629.2:c.4435_4445dup MANE Select	NP_001164100.1:p.Ile1482MetfsTer30
NM_020920.4:c.3598_3608dup	NP_065971.2:p.Ile1203MetfsTer30