Canonical Allele Identifier: CA2624084507

Gene: CHD8

Linked Data

• gnomAD v4: 14-21405649-AACAGATGTCTGCCTTGTACAAACTTCACCTTCTTTGTCCTGAGTTAGTACCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21405651_21405703del , CM000676.2:g.21405651_21405703del	GRCh38
NC_000014.8:g.21873810_21873862del , CM000676.1:g.21873810_21873862del	GRCh37
NC_000014.7:g.20943650_20943702del	NCBI36
NG_021249.1:g.36597_36649del

Transcript Alleles

HGVS	Amino-acid change
ENST00000430710.8:c.2214+19_2214+71del	ENSP00000406288.3:n.2214+19_2214+71del
ENST00000555935.2:c.727+19_727+71del
ENST00000555962.6:c.-110-2660_-110-2608del	ENSP00000495174.1:n.-110-2660_-110-2608de...
ENST00000557364.6:c.3051+19_3051+71del	ENSP00000451601.1:n.3051+19_3051+71del
ENST00000643469.1:c.3051+19_3051+71del	ENSP00000495070.1:n.3051+19_3051+71del
ENST00000645140.1:c.2963+19_2963+71del
ENST00000645206.1:n.1565+19_1565+71del
ENST00000645929.1:c.2214+19_2214+71del	ENSP00000494402.1:n.2214+19_2214+71del
ENST00000646340.1:c.3057+19_3057+71del	ENSP00000496730.1:n.3057+19_3057+71del
ENST00000646647.2:c.3051+19_3051+71del MANE Select	ENSP00000495240.1:n.3051+19_3051+71del
ENST00000399982.6:c.3051+19_3051+71del	ENSP00000382863.2:n.3051+19_3051+71del
ENST00000430710.7:c.2214+19_2214+71del	ENSP00000406288.3:n.2214+19_2214+71del
ENST00000555935.1:c.727+19_727+71del
ENST00000555962.5:n.151-2660_151-2608del
ENST00000557364.5:c.3051+19_3051+71del	ENSP00000451601.1:n.3051+19_3051+71del
NM_001170629.1:c.3051+19_3051+71del	NP_001164100.1:n.3051+19_3051+71del
NM_020920.3:c.2214+19_2214+71del	NP_065971.2:n.2214+19_2214+71del
NM_001170629.2:c.3051+19_3051+71del MANE Select	NP_001164100.1:n.3051+19_3051+71del
NM_020920.4:c.2214+19_2214+71del	NP_065971.2:n.2214+19_2214+71del