Canonical Allele Identifier: CA2589911083

Gene: CHD8

Linked Data

• gnomAD v3: 14-21406984-A-ATAACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406984_21406985insTAACAC , CM000676.2:g.21406984_21406985insTAACAC	GRCh38
NC_000014.8:g.21875143_21875144insTAACAC , CM000676.1:g.21875143_21875144insTAACAC	GRCh37
NC_000014.7:g.20944983_20944984insTAACAC	NCBI36
NG_021249.1:g.35314_35315insGTGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1941_1942insGTGTTA	ENSP00000406288.3:p.Thr647_Phe648insValLeu
ENST00000555935.2:c.454_455insGTGTTA
ENST00000555962.6:c.-110-3943_-110-3942insGTGTTA	ENSP00000495174.1:n.-110-3943_-110-3942insGTGTTA
ENST00000557364.6:c.2778_2779insGTGTTA	ENSP00000451601.1:p.Thr926_Phe927insValLeu
ENST00000643469.1:c.2778_2779insGTGTTA	ENSP00000495070.1:p.Thr926_Phe927insValLeu
ENST00000645140.1:c.2690_2691insGTGTTA
ENST00000645206.1:n.1292_1293insGTGTTA
ENST00000645929.1:c.1941_1942insGTGTTA	ENSP00000494402.1:p.Thr647_Phe648insValLeu
ENST00000646340.1:c.2784_2785insGTGTTA	ENSP00000496730.1:p.Thr928_Phe929insValLeu
ENST00000646647.2:c.2778_2779insGTGTTA MANE Select	ENSP00000495240.1:p.Thr926_Phe927insValLeu
ENST00000399982.6:c.2778_2779insGTGTTA	ENSP00000382863.2:p.Thr926_Phe927insValLeu
ENST00000430710.7:c.1941_1942insGTGTTA	ENSP00000406288.3:p.Thr647_Phe648insValLeu
ENST00000555935.1:c.454_455insGTGTTA
ENST00000555962.5:n.151-3943_151-3942insGTGTTA
ENST00000557364.5:c.2778_2779insGTGTTA	ENSP00000451601.1:p.Thr926_Phe927insValLeu
NM_001170629.1:c.2778_2779insGTGTTA	NP_001164100.1:p.Thr926_Phe927insValLeu
NM_020920.3:c.1941_1942insGTGTTA	NP_065971.2:p.Thr647_Phe648insValLeu
NM_001170629.2:c.2778_2779insGTGTTA MANE Select	NP_001164100.1:p.Thr926_Phe927insValLeu
NM_020920.4:c.1941_1942insGTGTTA	NP_065971.2:p.Thr647_Phe648insValLeu