Canonical Allele Identifier: CA2624084807

Gene: CHD8

Linked Data

• gnomAD v4: 14-21405973-ATAAAATGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405974_21405982del , CM000676.2:g.21405974_21405982del	GRCh38
NC_000014.8:g.21874133_21874141del , CM000676.1:g.21874133_21874141del	GRCh37
NC_000014.7:g.20943973_20943981del	NCBI36
NG_021249.1:g.36317_36325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-118_2071-110del	ENSP00000406288.3:n.2071-118_2071-110del
ENST00000555935.2:c.584-118_584-110del
ENST00000555962.6:c.-110-2940_-110-2932del	ENSP00000495174.1:n.-110-2940_-110-2932del
ENST00000557364.6:c.2908-118_2908-110del	ENSP00000451601.1:n.2908-118_2908-110del
ENST00000643469.1:c.2908-118_2908-110del	ENSP00000495070.1:n.2908-118_2908-110del
ENST00000645140.1:c.2820-118_2820-110del
ENST00000645206.1:n.1422-118_1422-110del
ENST00000645929.1:c.2071-118_2071-110del	ENSP00000494402.1:n.2071-118_2071-110del
ENST00000646340.1:c.2914-118_2914-110del	ENSP00000496730.1:n.2914-118_2914-110del
ENST00000646647.2:c.2908-118_2908-110del MANE Select	ENSP00000495240.1:n.2908-118_2908-110del
ENST00000399982.6:c.2908-118_2908-110del	ENSP00000382863.2:n.2908-118_2908-110del
ENST00000430710.7:c.2071-118_2071-110del	ENSP00000406288.3:n.2071-118_2071-110del
ENST00000555935.1:c.584-118_584-110del
ENST00000555962.5:n.151-2940_151-2932del
ENST00000557364.5:c.2908-118_2908-110del	ENSP00000451601.1:n.2908-118_2908-110del
NM_001170629.1:c.2908-118_2908-110del	NP_001164100.1:n.2908-118_2908-110del
NM_020920.3:c.2071-118_2071-110del	NP_065971.2:n.2071-118_2071-110del
NM_001170629.2:c.2908-118_2908-110del MANE Select	NP_001164100.1:n.2908-118_2908-110del
NM_020920.4:c.2071-118_2071-110del	NP_065971.2:n.2071-118_2071-110del