Canonical Allele Identifier: CA7091670
Gene: CHD8 HGNC NCBI

Linked Data

dbSNP Id: rs57234315
ExAC: 14:21883704 A / ATAAT
gnomAD v2: 14-21883704-A-ATAAT
gnomAD v3: 14-21415545-A-ATAAT
gnomAD v4: 14-21415545-A-ATAAT
MyVariant Identifiers: chr14:g.21883704_21883705insTAAT (hg19) chr14:g.21883705_21883707delinsTAATAAT (hg19) chr14:g.21415545_21415546insTAAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21415545_21415546insTAAT , CM000676.2:g.21415545_21415546insTAAT GRCh38
NC_000014.8:g.21883704_21883705insTAAT , CM000676.1:g.21883704_21883705insTAAT GRCh37
NC_000014.7:g.20953544_20953545insTAAT NCBI36
NG_021249.1:g.26753_26754insATTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.1131+28_1131+29insATTA ENSP00000406288.3:n.1131+28_1131+29insATTA
ENST00000555962.6:c.-110-12504_-110-12503insATTA ENSP00000495174.1:n.-110-12504_-110-12503insATTA
ENST00000557364.6:c.1968+28_1968+29insATTA ENSP00000451601.1:n.1968+28_1968+29insATTA
ENST00000642914.1:n.979_980insATTA
ENST00000643469.1:c.1968+28_1968+29insATTA ENSP00000495070.1:n.1968+28_1968+29insATTA
ENST00000645140.1:c.1880+28_1880+29insATTA
ENST00000645206.1:n.482+28_482+29insATTA
ENST00000645929.1:c.1131+28_1131+29insATTA ENSP00000494402.1:n.1131+28_1131+29insATTA
ENST00000646340.1:c.1974+28_1974+29insATTA ENSP00000496730.1:n.1974+28_1974+29insATTA
ENST00000646647.2:c.1968+28_1968+29insATTA MANE Select ENSP00000495240.1:n.1968+28_1968+29insATTA
ENST00000399982.6:c.1968+28_1968+29insATTA ENSP00000382863.2:n.1968+28_1968+29insATTA
ENST00000430710.7:c.1131+28_1131+29insATTA ENSP00000406288.3:n.1131+28_1131+29insATTA
ENST00000555962.5:n.151-12504_151-12503insATTA
ENST00000557364.5:c.1968+28_1968+29insATTA ENSP00000451601.1:n.1968+28_1968+29insATTA
NM_001170629.1:c.1968+28_1968+29insATTA NP_001164100.1:n.1968+28_1968+29insATTA
NM_020920.3:c.1131+28_1131+29insATTA NP_065971.2:n.1131+28_1131+29insATTA
NM_001170629.2:c.1968+28_1968+29insATTA MANE Select NP_001164100.1:n.1968+28_1968+29insATTA
NM_020920.4:c.1131+28_1131+29insATTA NP_065971.2:n.1131+28_1131+29insATTA
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