ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: CFTR
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000514465.1:p.Leu165Ter
ENST00000699596.1:c.494del
ENST00000699596.1:c.[494del;496A=]
ENST00000699596.1:c.[494del;496A>G]
ENST00000699596.1:c.[494del;496_497del]
ENST00000699596.1:c.494T>A
ENST00000699596.1:c.494T>G