Canonical Allele Identifier: CA7091661
Gene: CHD8 HGNC NCBI

Linked Data

dbSNP Id: rs1555316448

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21415544_21415547dup , CM000676.2:g.21415544_21415547dup GRCh38
NC_000014.8:g.21883703_21883706dup , CM000676.1:g.21883703_21883706dup GRCh37
NC_000014.7:g.20953543_20953546dup NCBI36
NG_021249.1:g.26753_26756dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000430710.8:c.1131+28_1131+31dup ENSP00000406288.3:n.1131+28_1131+31dup
ENST00000555962.6:c.-110-12504_-110-12501dup ENSP00000495174.1:n.-110-12504_-110-12501dup
ENST00000557364.6:c.1968+28_1968+31dup ENSP00000451601.1:n.1968+28_1968+31dup
ENST00000642914.1:n.979_982dup
ENST00000643469.1:c.1968+28_1968+31dup ENSP00000495070.1:n.1968+28_1968+31dup
ENST00000645140.1:c.1880+28_1880+31dup
ENST00000645206.1:n.482+28_482+31dup
ENST00000645929.1:c.1131+28_1131+31dup ENSP00000494402.1:n.1131+28_1131+31dup
ENST00000646340.1:c.1974+28_1974+31dup ENSP00000496730.1:n.1974+28_1974+31dup
ENST00000646647.2:c.1968+28_1968+31dup MANE Select ENSP00000495240.1:n.1968+28_1968+31dup
ENST00000399982.6:c.1968+28_1968+31dup ENSP00000382863.2:n.1968+28_1968+31dup
ENST00000430710.7:c.1131+28_1131+31dup ENSP00000406288.3:n.1131+28_1131+31dup
ENST00000555962.5:n.151-12504_151-12501dup
ENST00000557364.5:c.1968+28_1968+31dup ENSP00000451601.1:n.1968+28_1968+31dup
NM_001170629.1:c.1968+28_1968+31dup NP_001164100.1:n.1968+28_1968+31dup
NM_020920.3:c.1131+28_1131+31dup NP_065971.2:n.1131+28_1131+31dup
NM_001170629.2:c.1968+28_1968+31dup MANE Select NP_001164100.1:n.1968+28_1968+31dup
NM_020920.4:c.1131+28_1131+31dup NP_065971.2:n.1131+28_1131+31dup