Canonical Allele Identifier: CA2122488903

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21415421_21415422delinsGC , CM000676.2:g.21415421_21415422delinsGC	GRCh38
NC_000014.8:g.21883580_21883581delinsGC , CM000676.1:g.21883580_21883581delinsGC	GRCh37
NC_000014.7:g.20953420_20953421delinsGC	NCBI36
NG_021249.1:g.26877_26878delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1131+152_1131+153delinsGC	ENSP00000406288.3:n.1131+152_1131+153delinsGC
ENST00000555962.6:c.-110-12380_-110-12379delinsGC	ENSP00000495174.1:n.-110-12380_-110-12379delinsGC
ENST00000557364.6:c.1968+152_1968+153delinsGC	ENSP00000451601.1:n.1968+152_1968+153delinsGC
ENST00000642914.1:n.1103_1104delinsGC
ENST00000643469.1:c.1968+152_1968+153delinsGC	ENSP00000495070.1:n.1968+152_1968+153delinsGC
ENST00000645140.1:c.1880+152_1880+153delinsGC
ENST00000645206.1:n.482+152_482+153delinsGC
ENST00000645929.1:c.1131+152_1131+153delinsGC	ENSP00000494402.1:n.1131+152_1131+153delinsGC
ENST00000646340.1:c.1974+152_1974+153delinsGC	ENSP00000496730.1:n.1974+152_1974+153delinsGC
ENST00000646647.2:c.1968+152_1968+153delinsGC MANE Select	ENSP00000495240.1:n.1968+152_1968+153delinsGC
ENST00000399982.6:c.1968+152_1968+153delinsGC	ENSP00000382863.2:n.1968+152_1968+153delinsGC
ENST00000430710.7:c.1131+152_1131+153delinsGC	ENSP00000406288.3:n.1131+152_1131+153delinsGC
ENST00000555962.5:n.151-12380_151-12379delinsGC
ENST00000557364.5:c.1968+152_1968+153delinsGC	ENSP00000451601.1:n.1968+152_1968+153delinsGC
NM_001170629.1:c.1968+152_1968+153delinsGC	NP_001164100.1:n.1968+152_1968+153delinsGC
NM_020920.3:c.1131+152_1131+153delinsGC	NP_065971.2:n.1131+152_1131+153delinsGC
NM_001170629.2:c.1968+152_1968+153delinsGC MANE Select	NP_001164100.1:n.1968+152_1968+153delinsGC
NM_020920.4:c.1131+152_1131+153delinsGC	NP_065971.2:n.1131+152_1131+153delinsGC