Canonical Allele Identifier: CA2122483026

Gene: CHD8

Linked Data

• dbSNP Id: rs1888405478
• gnomAD v4: 14-21409738-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21409742_21409743del , CM000676.2:g.21409742_21409743del	GRCh38
NC_000014.8:g.21877901_21877902del , CM000676.1:g.21877901_21877902del	GRCh37
NC_000014.7:g.20947741_20947742del	NCBI36
NG_021249.1:g.32559_32560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.1527+111_1527+112del	ENSP00000406288.3:n.1527+111_1527+112del
ENST00000555935.2:c.40+111_40+112del
ENST00000555962.6:c.-110-6698_-110-6697del	ENSP00000495174.1:n.-110-6698_-110-6697del
ENST00000557364.6:c.2364+111_2364+112del	ENSP00000451601.1:n.2364+111_2364+112del
ENST00000643469.1:c.2364+111_2364+112del	ENSP00000495070.1:n.2364+111_2364+112del
ENST00000645140.1:c.2276+111_2276+112del
ENST00000645206.1:n.878+111_878+112del
ENST00000645929.1:c.1527+111_1527+112del	ENSP00000494402.1:n.1527+111_1527+112del
ENST00000646340.1:c.2370+111_2370+112del	ENSP00000496730.1:n.2370+111_2370+112del
ENST00000646647.2:c.2364+111_2364+112del MANE Select	ENSP00000495240.1:n.2364+111_2364+112del
ENST00000399982.6:c.2364+111_2364+112del	ENSP00000382863.2:n.2364+111_2364+112del
ENST00000430710.7:c.1527+111_1527+112del	ENSP00000406288.3:n.1527+111_1527+112del
ENST00000554384.1:n.232+111_232+112del
ENST00000555935.1:c.40+111_40+112del
ENST00000555962.5:n.151-6698_151-6697del
ENST00000557364.5:c.2364+111_2364+112del	ENSP00000451601.1:n.2364+111_2364+112del
NM_001170629.1:c.2364+111_2364+112del	NP_001164100.1:n.2364+111_2364+112del
NM_020920.3:c.1527+111_1527+112del	NP_065971.2:n.1527+111_1527+112del
NM_001170629.2:c.2364+111_2364+112del MANE Select	NP_001164100.1:n.2364+111_2364+112del
NM_020920.4:c.1527+111_1527+112del	NP_065971.2:n.1527+111_1527+112del