Canonical Allele Identifier: CA960916252

Gene: CHD8

Linked Data

• gnomAD v3: 14-21401184-T-TCGCCG
• gnomAD v4: 14-21401184-T-TCGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21401184_21401185insCGCCG , CM000676.2:g.21401184_21401185insCGCCG	GRCh38
NC_000014.8:g.21869343_21869344insCGCCG , CM000676.1:g.21869343_21869344insCGCCG	GRCh37
NC_000014.7:g.20939183_20939184insCGCCG	NCBI36
NG_021249.1:g.41114_41115insCGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.3337-114_3337-113insCGGCG	ENSP00000406288.3:n.3337-114_3337-113insCGGCG
ENST00000555935.2:c.1850-114_1850-113insCGGCG
ENST00000555962.6:c.264+772_264+773insCGGCG	ENSP00000495174.1:n.264+772_264+773insCGGCG
ENST00000557364.6:c.4174-114_4174-113insCGGCG	ENSP00000451601.1:n.4174-114_4174-113insCGGCG
ENST00000643469.1:c.4174-114_4174-113insCGGCG	ENSP00000495070.1:n.4174-114_4174-113insCGGCG
ENST00000645206.1:n.2688-114_2688-113insCGGCG
ENST00000645929.1:c.3337-114_3337-113insCGGCG	ENSP00000494402.1:n.3337-114_3337-113insCGGCG
ENST00000646340.1:c.4180-114_4180-113insCGGCG	ENSP00000496730.1:n.4180-114_4180-113insCGGCG
ENST00000646558.1:n.728-114_728-113insCGGCG
ENST00000646647.2:c.4174-114_4174-113insCGGCG MANE Select	ENSP00000495240.1:n.4174-114_4174-113insCGGCG
ENST00000399982.6:c.4174-114_4174-113insCGGCG	ENSP00000382863.2:n.4174-114_4174-113insCGGCG
ENST00000430710.7:c.3337-114_3337-113insCGGCG	ENSP00000406288.3:n.3337-114_3337-113insCGGCG
ENST00000555935.1:c.1850-114_1850-113insCGGCG
ENST00000555962.5:n.524+772_524+773insCGGCG
ENST00000557364.5:c.4174-114_4174-113insCGGCG	ENSP00000451601.1:n.4174-114_4174-113insCGGCG
NM_001170629.1:c.4174-114_4174-113insCGGCG	NP_001164100.1:n.4174-114_4174-113insCGGCG
NM_020920.3:c.3337-114_3337-113insCGGCG	NP_065971.2:n.3337-114_3337-113insCGGCG
NM_001170629.2:c.4174-114_4174-113insCGGCG MANE Select	NP_001164100.1:n.4174-114_4174-113insCGGCG
NM_020920.4:c.3337-114_3337-113insCGGCG	NP_065971.2:n.3337-114_3337-113insCGGCG