Canonical Allele Identifier: CA2589911079

Gene: CHD8

Linked Data

• gnomAD v3: 14-21406971-A-AGGTAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406971_21406972insGGTAGT , CM000676.2:g.21406971_21406972insGGTAGT	GRCh38
NC_000014.8:g.21875130_21875131insGGTAGT , CM000676.1:g.21875130_21875131insGGTAGT	GRCh37
NC_000014.7:g.20944970_20944971insGGTAGT	NCBI36
NG_021249.1:g.35327_35328insACTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1954_1955insACTACC	ENSP00000406288.3:p.Ile651_Leu652insTyrTyr
ENST00000555935.2:c.467_468insACTACC
ENST00000555962.6:c.-110-3930_-110-3929insACTACC	ENSP00000495174.1:n.-110-3930_-110-3929insACTACC
ENST00000557364.6:c.2791_2792insACTACC	ENSP00000451601.1:p.Ile930_Leu931insTyrTyr
ENST00000643469.1:c.2791_2792insACTACC	ENSP00000495070.1:p.Ile930_Leu931insTyrTyr
ENST00000645140.1:c.2703_2704insACTACC
ENST00000645206.1:n.1305_1306insACTACC
ENST00000645929.1:c.1954_1955insACTACC	ENSP00000494402.1:p.Ile651_Leu652insTyrTyr
ENST00000646340.1:c.2797_2798insACTACC	ENSP00000496730.1:p.Ile932_Leu933insTyrTyr
ENST00000646647.2:c.2791_2792insACTACC MANE Select	ENSP00000495240.1:p.Ile930_Leu931insTyrTyr
ENST00000399982.6:c.2791_2792insACTACC	ENSP00000382863.2:p.Ile930_Leu931insTyrTyr
ENST00000430710.7:c.1954_1955insACTACC	ENSP00000406288.3:p.Ile651_Leu652insTyrTyr
ENST00000555935.1:c.467_468insACTACC
ENST00000555962.5:n.151-3930_151-3929insACTACC
ENST00000557364.5:c.2791_2792insACTACC	ENSP00000451601.1:p.Ile930_Leu931insTyrTyr
NM_001170629.1:c.2791_2792insACTACC	NP_001164100.1:p.Ile930_Leu931insTyrTyr
NM_020920.3:c.1954_1955insACTACC	NP_065971.2:p.Ile651_Leu652insTyrTyr
NM_001170629.2:c.2791_2792insACTACC MANE Select	NP_001164100.1:p.Ile930_Leu931insTyrTyr
NM_020920.4:c.1954_1955insACTACC	NP_065971.2:p.Ile651_Leu652insTyrTyr