Canonical Allele Identifier: CA2122502578

Gene: CHD8

Linked Data

• dbSNP Id: rs1888237950
• gnomAD v4: 14-21405977-AATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405982_21405984del , CM000676.2:g.21405982_21405984del	GRCh38
NC_000014.8:g.21874141_21874143del , CM000676.1:g.21874141_21874143del	GRCh37
NC_000014.7:g.20943981_20943983del	NCBI36
NG_021249.1:g.36319_36321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-116_2071-114del	ENSP00000406288.3:n.2071-116_2071-114del
ENST00000555935.2:c.584-116_584-114del
ENST00000555962.6:c.-110-2938_-110-2936del	ENSP00000495174.1:n.-110-2938_-110-2936del
ENST00000557364.6:c.2908-116_2908-114del	ENSP00000451601.1:n.2908-116_2908-114del
ENST00000643469.1:c.2908-116_2908-114del	ENSP00000495070.1:n.2908-116_2908-114del
ENST00000645140.1:c.2820-116_2820-114del
ENST00000645206.1:n.1422-116_1422-114del
ENST00000645929.1:c.2071-116_2071-114del	ENSP00000494402.1:n.2071-116_2071-114del
ENST00000646340.1:c.2914-116_2914-114del	ENSP00000496730.1:n.2914-116_2914-114del
ENST00000646647.2:c.2908-116_2908-114del MANE Select	ENSP00000495240.1:n.2908-116_2908-114del
ENST00000399982.6:c.2908-116_2908-114del	ENSP00000382863.2:n.2908-116_2908-114del
ENST00000430710.7:c.2071-116_2071-114del	ENSP00000406288.3:n.2071-116_2071-114del
ENST00000555935.1:c.584-116_584-114del
ENST00000555962.5:n.151-2938_151-2936del
ENST00000557364.5:c.2908-116_2908-114del	ENSP00000451601.1:n.2908-116_2908-114del
NM_001170629.1:c.2908-116_2908-114del	NP_001164100.1:n.2908-116_2908-114del
NM_020920.3:c.2071-116_2071-114del	NP_065971.2:n.2071-116_2071-114del
NM_001170629.2:c.2908-116_2908-114del MANE Select	NP_001164100.1:n.2908-116_2908-114del
NM_020920.4:c.2071-116_2071-114del	NP_065971.2:n.2071-116_2071-114del