Canonical Allele Identifier: CA2624078745

Gene: CHD8

Linked Data

• gnomAD v4: 14-21393716-CTAGCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393719_21393724del , CM000676.2:g.21393719_21393724del	GRCh38
NC_000014.8:g.21861878_21861883del , CM000676.1:g.21861878_21861883del	GRCh37
NC_000014.7:g.20931718_20931723del	NCBI36
NG_021249.1:g.48577_48582del

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.5236_5241del	ENSP00000406288.3:p.Lys1746_Leu1747del
ENST00000555935.2:c.3773_3778del
ENST00000557364.6:c.6073_6078del	ENSP00000451601.1:p.Lys2025_Leu2026del
ENST00000643469.1:c.6073_6078del	ENSP00000495070.1:p.Lys2025_Leu2026del
ENST00000645206.1:n.5229_5234del
ENST00000645929.1:c.5236_5241del	ENSP00000494402.1:p.Lys1746_Leu1747del
ENST00000646647.2:c.6073_6078del MANE Select	ENSP00000495240.1:p.Lys2025_Leu2026del
ENST00000399982.6:c.6073_6078del	ENSP00000382863.2:p.Lys2025_Leu2026del
ENST00000430710.7:c.5236_5241del	ENSP00000406288.3:p.Lys1746_Leu1747del
ENST00000555301.1:n.867_872del
ENST00000557364.5:c.6073_6078del	ENSP00000451601.1:p.Lys2025_Leu2026del
NM_001170629.1:c.6073_6078del	NP_001164100.1:p.Lys2025_Leu2026del
NM_020920.3:c.5236_5241del	NP_065971.2:p.Lys1746_Leu1747del
NM_001170629.2:c.6073_6078del MANE Select	NP_001164100.1:p.Lys2025_Leu2026del
NM_020920.4:c.5236_5241del	NP_065971.2:p.Lys1746_Leu1747del