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
XP_016869101.1:p.Lys602del	CA371312003 XM_017013612.1:c.1789A>T CA371312030 XM_017013612.1:c.1792A>T CA371312061 XM_017013612.1:c.1795A>T CA371312083 XM_017013612.1:c.1798A>T CA371312104 XM_017013612.1:c.1801A>T CA371312122 XM_017013612.1:c.1804A>T CA582403414 XM_017013612.1:c.1797_1799del