Canonical Allele Identifier: CA2122502630

Gene: CHD8

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21406030_21406032delinsCCT , CM000676.2:g.21406030_21406032delinsCCT	GRCh38
NC_000014.8:g.21874189_21874191delinsCCT , CM000676.1:g.21874189_21874191delinsCCT	GRCh37
NC_000014.7:g.20944029_20944031delinsCCT	NCBI36
NG_021249.1:g.36267_36269delinsAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000430710.8:c.2071-168_2071-166delinsAGG	ENSP00000406288.3:n.2071-168_2071-166delinsAGG
ENST00000555935.2:c.584-168_584-166delinsAGG
ENST00000555962.6:c.-110-2990_-110-2988delinsAGG	ENSP00000495174.1:n.-110-2990_-110-2988delinsAGG
ENST00000557364.6:c.2908-168_2908-166delinsAGG	ENSP00000451601.1:n.2908-168_2908-166delinsAGG
ENST00000643469.1:c.2908-168_2908-166delinsAGG	ENSP00000495070.1:n.2908-168_2908-166delinsAGG
ENST00000645140.1:c.2820-168_2820-166delinsAGG
ENST00000645206.1:n.1422-168_1422-166delinsAGG
ENST00000645929.1:c.2071-168_2071-166delinsAGG	ENSP00000494402.1:n.2071-168_2071-166delinsAGG
ENST00000646340.1:c.2914-168_2914-166delinsAGG	ENSP00000496730.1:n.2914-168_2914-166delinsAGG
ENST00000646647.2:c.2908-168_2908-166delinsAGG MANE Select	ENSP00000495240.1:n.2908-168_2908-166delinsAGG
ENST00000399982.6:c.2908-168_2908-166delinsAGG	ENSP00000382863.2:n.2908-168_2908-166delinsAGG
ENST00000430710.7:c.2071-168_2071-166delinsAGG	ENSP00000406288.3:n.2071-168_2071-166delinsAGG
ENST00000555935.1:c.584-168_584-166delinsAGG
ENST00000555962.5:n.151-2990_151-2988delinsAGG
ENST00000557364.5:c.2908-168_2908-166delinsAGG	ENSP00000451601.1:n.2908-168_2908-166delinsAGG
NM_001170629.1:c.2908-168_2908-166delinsAGG	NP_001164100.1:n.2908-168_2908-166delinsAGG
NM_020920.3:c.2071-168_2071-166delinsAGG	NP_065971.2:n.2071-168_2071-166delinsAGG
NM_001170629.2:c.2908-168_2908-166delinsAGG MANE Select	NP_001164100.1:n.2908-168_2908-166delinsAGG
NM_020920.4:c.2071-168_2071-166delinsAGG	NP_065971.2:n.2071-168_2071-166delinsAGG