Canonical Allele Identifier: CA2624078743

Gene: CHD8

Linked Data

• gnomAD v4: 14-21393524-AGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21393525_21393526del , CM000676.2:g.21393525_21393526del	GRCh38
NC_000014.8:g.21861684_21861685del , CM000676.1:g.21861684_21861685del	GRCh37
NC_000014.7:g.20931524_20931525del	NCBI36
NG_021249.1:g.48773_48774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.5432_5433del	ENSP00000406288.3:p.Ser1811IlefsTer6
ENST00000555935.2:c.3969_3970del
ENST00000557364.6:c.6269_6270del	ENSP00000451601.1:p.Ser2090IlefsTer6
ENST00000643469.1:c.6269_6270del	ENSP00000495070.1:p.Ser2090IlefsTer6
ENST00000645206.1:n.5425_5426del
ENST00000645929.1:c.5432_5433del	ENSP00000494402.1:p.Ser1811IlefsTer6
ENST00000646647.2:c.6269_6270del MANE Select	ENSP00000495240.1:p.Ser2090IlefsTer6
ENST00000399982.6:c.6269_6270del	ENSP00000382863.2:p.Ser2090IlefsTer6
ENST00000430710.7:c.5432_5433del	ENSP00000406288.3:p.Ser1811IlefsTer6
ENST00000557364.5:c.6269_6270del	ENSP00000451601.1:p.Ser2090IlefsTer6
NM_001170629.1:c.6269_6270del	NP_001164100.1:p.Ser2090IlefsTer6
NM_020920.3:c.5432_5433del	NP_065971.2:p.Ser1811IlefsTer6
NM_001170629.2:c.6269_6270del MANE Select	NP_001164100.1:p.Ser2090IlefsTer6
NM_020920.4:c.5432_5433del	NP_065971.2:p.Ser1811IlefsTer6