Canonical Allele Identifier: CA10588570
Gene: CHD8 HGNC NCBI

Linked Data

ClinVar Variation Id: 265679
ClinVar RCV Id: RCV000255702
dbSNP Id: rs886039725
MyVariant Identifiers: chr14:g.21869231_21869239del (hg19) chr14:g.21401072_21401080del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21401072_21401080del , CM000676.2:g.21401072_21401080del GRCh38
NC_000014.8:g.21869231_21869239del , CM000676.1:g.21869231_21869239del GRCh37
NC_000014.7:g.20939071_20939079del NCBI36
NG_021249.1:g.41219_41227del

Transcript Alleles

HGVS Amino-acid change
ENST00000430710.8:c.3337-9_3337-1del ENSP00000406288.3:n.3337-9_3337-1del
ENST00000555935.2:c.1850-9_1850-1del
ENST00000555962.6:c.265-773_265-765del ENSP00000495174.1:n.265-773_265-765del
ENST00000557364.6:c.4174-9_4174-1del ENSP00000451601.1:n.4174-9_4174-1del
ENST00000643469.1:c.4174-9_4174-1del ENSP00000495070.1:n.4174-9_4174-1del
ENST00000645206.1:n.2688-9_2688-1del
ENST00000645929.1:c.3337-9_3337-1del ENSP00000494402.1:n.3337-9_3337-1del
ENST00000646340.1:c.4180-9_4180-1del ENSP00000496730.1:n.4180-9_4180-1del
ENST00000646558.1:n.728-9_728-1del
ENST00000646647.2:c.4174-9_4174-1del MANE Select ENSP00000495240.1:n.4174-9_4174-1del
ENST00000399982.6:c.4174-9_4174-1del ENSP00000382863.2:n.4174-9_4174-1del
ENST00000430710.7:c.3337-9_3337-1del ENSP00000406288.3:n.3337-9_3337-1del
ENST00000555935.1:c.1850-9_1850-1del
ENST00000555962.5:n.525-773_525-765del
ENST00000557364.5:c.4174-9_4174-1del ENSP00000451601.1:n.4174-9_4174-1del
NM_001170629.1:c.4174-9_4174-1del NP_001164100.1:n.4174-9_4174-1del
NM_020920.3:c.3337-9_3337-1del NP_065971.2:n.3337-9_3337-1del
NM_001170629.2:c.4174-9_4174-1del MANE Select NP_001164100.1:n.4174-9_4174-1del
NM_020920.4:c.3337-9_3337-1del NP_065971.2:n.3337-9_3337-1del
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