Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000512218.1:p.Lys602del	CA371312003 ENST00000695853.1:c.1789A>T CA371312030 ENST00000695853.1:c.1792A>T CA371312061 ENST00000695853.1:c.1795A>T CA371312083 ENST00000695853.1:c.1798A>T CA371312104 ENST00000695853.1:c.1801A>T CA371312122 ENST00000695853.1:c.1804A>T CA582403414 ENST00000695853.1:c.1797_1799del