Canonical Allele Identifier: CA645590769

Gene: CHD8

Linked Data

• COSMIC: COSM5986538 ; COSM5986539

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409861_21409862insCCGA , CM000676.2:g.21409861_21409862insCCGA	GRCh38
NC_000014.8:g.21878020_21878021insCCGA , CM000676.1:g.21878020_21878021insCCGA	GRCh37
NC_000014.7:g.20947860_20947861insCCGA	NCBI36
NG_021249.1:g.32439_32440insGGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.1518_1519insGGTC	ENSP00000406288.3:p.Lys507GlyfsTer20
ENST00000555935.2:c.31_32insGGTC
ENST00000555962.6:c.-110-6818_-110-6817insGGTC	ENSP00000495174.1:n.-110-6818_-110-6817in...
ENST00000557364.6:c.2355_2356insGGTC	ENSP00000451601.1:p.Lys786GlyfsTer20
ENST00000643469.1:c.2355_2356insGGTC	ENSP00000495070.1:p.Lys786GlyfsTer20
ENST00000645140.1:c.2267_2268insGGTC
ENST00000645206.1:n.869_870insGGTC
ENST00000645929.1:c.1518_1519insGGTC	ENSP00000494402.1:p.Lys507GlyfsTer20
ENST00000646340.1:c.2361_2362insGGTC	ENSP00000496730.1:p.Lys788GlyfsTer20
ENST00000646647.2:c.2355_2356insGGTC MANE Select	ENSP00000495240.1:p.Lys786GlyfsTer20
ENST00000399982.6:c.2355_2356insGGTC	ENSP00000382863.2:p.Lys786GlyfsTer20
ENST00000430710.7:c.1518_1519insGGTC	ENSP00000406288.3:p.Lys507GlyfsTer20
ENST00000554384.1:n.223_224insGGTC
ENST00000555935.1:c.31_32insGGTC
ENST00000555962.5:n.151-6818_151-6817insGGTC
ENST00000557364.5:c.2355_2356insGGTC	ENSP00000451601.1:p.Lys786GlyfsTer20
NM_001170629.1:c.2355_2356insGGTC	NP_001164100.1:p.Lys786GlyfsTer20
NM_020920.3:c.1518_1519insGGTC	NP_065971.2:p.Lys507GlyfsTer20
NM_001170629.2:c.2355_2356insGGTC MANE Select	NP_001164100.1:p.Lys786GlyfsTer20
NM_020920.4:c.1518_1519insGGTC	NP_065971.2:p.Lys507GlyfsTer20