Canonical Allele Identifier: CA612384485

Gene: CHD8

Linked Data

• gnomAD v2: 14-21869330-A-AGCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGC
• gnomAD v3: 14-21401171-A-AGCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGC
• gnomAD v4: 14-21401171-A-AGCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGC
• MyVariant Identifiers: chr14:g.21869330_21869331insGCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGC (hg19) ; chr14:g.21401171_21401172insGCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401172_21401173insCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGCG , CM000676.2:g.21401172_21401173insCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGCG	GRCh38
NC_000014.8:g.21869331_21869332insCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGCG , CM000676.1:g.21869331_21869332insCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGCG	GRCh37
NC_000014.7:g.20939171_20939172insCTGTAAAGACTCCCGAAAGTAGTGTGGTCTTCTGCG	NCBI36
NG_021249.1:g.41127_41128insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3337-101_3337-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000406288.3:n.3337-101_3337-100insGCAGAAGACCACACTACTTTC...
ENST00000555935.2:c.1850-101_1850-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC
ENST00000555962.6:c.264+785_264+786insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000495174.1:n.264+785_264+786insGCAGAAGACCACACTACTTTCGG...
ENST00000557364.6:c.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000451601.1:n.4174-101_4174-100insGCAGAAGACCACACTACTTTC...
ENST00000643469.1:c.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000495070.1:n.4174-101_4174-100insGCAGAAGACCACACTACTTTC...
ENST00000645206.1:n.2688-101_2688-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC
ENST00000645929.1:c.3337-101_3337-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000494402.1:n.3337-101_3337-100insGCAGAAGACCACACTACTTTC...
ENST00000646340.1:c.4180-101_4180-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000496730.1:n.4180-101_4180-100insGCAGAAGACCACACTACTTTC...
ENST00000646558.1:n.728-101_728-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC
ENST00000646647.2:c.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC MANE Select	ENSP00000495240.1:n.4174-101_4174-100insGCAGAAGACCACACTACTTTC...
ENST00000399982.6:c.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000382863.2:n.4174-101_4174-100insGCAGAAGACCACACTACTTTC...
ENST00000430710.7:c.3337-101_3337-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000406288.3:n.3337-101_3337-100insGCAGAAGACCACACTACTTTC...
ENST00000555935.1:c.1850-101_1850-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC
ENST00000555962.5:n.524+785_524+786insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC
ENST00000557364.5:c.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	ENSP00000451601.1:n.4174-101_4174-100insGCAGAAGACCACACTACTTTC...
NM_001170629.1:c.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	NP_001164100.1:n.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGG...
NM_020920.3:c.3337-101_3337-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	NP_065971.2:n.3337-101_3337-100insGCAGAAGACCACACTACTTTCGGGAGT...
NM_001170629.2:c.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC MANE Select	NP_001164100.1:n.4174-101_4174-100insGCAGAAGACCACACTACTTTCGGG...
NM_020920.4:c.3337-101_3337-100insGCAGAAGACCACACTACTTTCGGGAGTCTTTACAGC	NP_065971.2:n.3337-101_3337-100insGCAGAAGACCACACTACTTTCGGGAGT...