Allele Registry

Amino-acid Alleles

HGVS (amino-acid)

Transcript change

ENSP00000423862.1:p.Gln43_Lys46del

ENST00000514944.5:c.[127_138del;140C=;142...

ENST00000514944.5:c.[127_138del;140C=;143...

ENST00000514944.5:c.[127_138del;140C=;144...

ENST00000514944.5:c.[127_138del;140C=;145...

ENST00000514944.5:c.[127_138del;140C=;146...

ENST00000514944.5:c.[127_138del;140C=;147...

ENST00000514944.5:c.[127_138del;140C=;148...

ENST00000514944.5:c.[127_138del;140C=;149...

ENST00000514944.5:c.[127_138del;140C=;150...

ENST00000514944.5:c.[127_138del;140C=;151...

ENST00000514944.5:c.[127_138del;140C=;152...

ENST00000514944.5:c.[127_138del;140C=;153...

ENST00000514944.5:c.[127_138del;140C=;154...

ENST00000514944.5:c.[127_138del;140C=;155...

ENST00000514944.5:c.[127_138del;140C=;156...

ENST00000514944.5:c.[127_138del;140C=;157...

ENST00000514944.5:c.[127_138del;140C=;158...

ENST00000514944.5:c.[127_138del;140C=;159...

ENST00000514944.5:c.[127_138del;140C=;160...

ENST00000514944.5:c.[127_138del;140C=;161...

ENST00000514944.5:c.[127_138del;140C=;162...

ENST00000514944.5:c.[127_138del;140C=;163...

ENST00000514944.5:c.[127_138del;140C=;164...

ENST00000514944.5:c.[127_138del;140C=;165...

ENST00000514944.5:c.[127_138del;140C=;166...

ENST00000514944.5:c.[127_138del;140C=;167...

ENST00000514944.5:c.[127_138del;140C=;168...

ENST00000514944.5:c.[127_138del;140C=;169...

ENST00000514944.5:c.[127_138del;140C=;171...

ENST00000514944.5:c.[127_138del;140C=;172...

ENST00000514944.5:c.[127_138del;140C=;173...

ENST00000514944.5:c.[127_138del;140C=;174...

ENST00000514944.5:c.[127_138del;140C=;175...

ENST00000514944.5:c.[127_138del;140C=;176...

ENST00000514944.5:c.[127_138del;140C=;177...

ENST00000514944.5:c.[127_138del;140C=;178...

ENST00000514944.5:c.[127_138del;140C=;179...

ENST00000514944.5:c.[127_138del;140C=;180...

ENST00000514944.5:c.[127_138del;140C=;181...

ENST00000514944.5:c.[127_138del;140C=;182...

ENST00000514944.5:c.[127_138del;140C=;183...

ENST00000514944.5:c.[127_138del;140C=;184...

ENST00000514944.5:c.[127_138del;140C=;185...

ENST00000514944.5:c.[127_138del;140C=;186...

ENST00000514944.5:c.[127_138del;140C=;187...

ENST00000514944.5:c.[127_138del;140C=;188...

ENST00000514944.5:c.[127_138del;140C=;189...

ENST00000514944.5:c.[127_138del;140C=;190...

ENST00000514944.5:c.[127_138del;140C=;191...

ENST00000514944.5:c.[127_138del;140C=;192...

ENST00000514944.5:c.[127_138del;140C=;193...

ENST00000514944.5:c.[127_138del;140C=;194...

ENST00000514944.5:c.[127_138del;140C=;195...

ENST00000514944.5:c.[127_138del;140C=;196...

ENST00000514944.5:c.[127_138del;140C=;197...

ENST00000514944.5:c.[127_138del;140C=;198...

ENST00000514944.5:c.[127_138del;140C=;199...

ENST00000514944.5:c.[127_138del;140C=;200...

ENST00000514944.5:c.[127_138del;140C=;201...

ENST00000514944.5:c.[127_138del;140C=;202...

ENST00000514944.5:c.[127_138del;140C=;203...

ENST00000514944.5:c.[127_138del;140C=;204...

ENST00000514944.5:c.[127_138del;140C=;205...

ENST00000514944.5:c.[127_138del;140C=;206...

ENST00000514944.5:c.[127_138del;140C=;207...

ENST00000514944.5:c.[127_138del;140C=;208...

ENST00000514944.5:c.[127_138del;140C=;209...

ENST00000514944.5:c.[127_138del;140C=;210...

ENST00000514944.5:c.[127_138del;140C=;211...

ENST00000514944.5:c.[127_138del;140C=;213...

ENST00000514944.5:c.[127_138del;140C=;214...

ENST00000514944.5:c.[127_138del;140C=;215...

ENST00000514944.5:c.[127_138del;140C=;216...

ENST00000514944.5:c.[127_138del;140C=;217...

ENST00000514944.5:c.[127_138del;140C=;218...

ENST00000514944.5:c.[127_138del;140_152de...

ENST00000514944.5:c.[127_138del;141del;14...

ENST00000514944.5:c.[127_138del;141C>A;14...

ENST00000514944.5:c.[127_138del;141C>A;15...

ENST00000514944.5:c.[127_138del;141C>A;16...

ENST00000514944.5:c.[127_138del;141C>A;17...

ENST00000514944.5:c.[127_138del;141C>A;18...

ENST00000514944.5:c.[127_138del;141C>A;19...

ENST00000514944.5:c.[127_138del;141C>A;20...

ENST00000514944.5:c.[127_138del;141C>A;21...

ENST00000514944.5:c.[127_138del;141C>G;14...

ENST00000514944.5:c.[127_138del;141C>G;15...

ENST00000514944.5:c.[127_138del;141C>G;16...

ENST00000514944.5:c.[127_138del;141C>G;17...

ENST00000514944.5:c.[127_138del;141C>G;18...

ENST00000514944.5:c.[127_138del;141C>G;19...

ENST00000514944.5:c.[127_138del;141C>G;20...

ENST00000514944.5:c.[127_138del;141C>G;21...

ENST00000514944.5:c.[127_138del;141C>T;14...

ENST00000514944.5:c.[127_138del;141C>T;15...

ENST00000514944.5:c.[127_138del;141C>T;16...

ENST00000514944.5:c.[127_138del;141C>T;17...

ENST00000514944.5:c.[127_138del;141C>T;18...

ENST00000514944.5:c.[127_138del;141C>T;19...

ENST00000514944.5:c.[127_138del;141C>T;20...

ENST00000514944.5:c.[127_138del;141C>T;21...

ENST00000514944.5:c.[127_138del;142T=]

ENST00000514944.5:c.[127_138del;143G=]

ENST00000514944.5:c.[127_138del;144C=]

ENST00000514944.5:c.[127_138del;144C>T]

ENST00000514944.5:c.[127_138del;145C=]

ENST00000514944.5:c.[127_138del;146C=]

ENST00000514944.5:c.[127_138del;147T>A]

ENST00000514944.5:c.[127_138del;147T>C]

ENST00000514944.5:c.[127_138del;147T>G]

ENST00000514944.5:c.[127_138del;148G=]

ENST00000514944.5:c.[127_138del;149T=]

ENST00000514944.5:c.[127_138del;150del;15...

ENST00000514944.5:c.[127_138del;150G>A]

ENST00000514944.5:c.[127_138del;150G>C]

ENST00000514944.5:c.[127_138del;150G>T]

ENST00000514944.5:c.[127_138del;151C=]

ENST00000514944.5:c.[127_138del;152A=]

ENST00000514944.5:c.[127_138del;152_155de...

ENST00000514944.5:c.[127_138del;153G>A]

ENST00000514944.5:c.[127_138del;153G=]

ENST00000514944.5:c.[127_138del;154C=]

ENST00000514944.5:c.[127_138del;154C>T]

ENST00000514944.5:c.[127_138del;155T=]

ENST00000514944.5:c.[127_138del;156G>A]

ENST00000514944.5:c.[127_138del;156G>C]

ENST00000514944.5:c.[127_138del;156G>T]

ENST00000514944.5:c.[127_138del;157T=]

ENST00000514944.5:c.[127_138del;158G=]

ENST00000514944.5:c.[127_138del;159G=]

ENST00000514944.5:c.[127_138del;160G=]

ENST00000514944.5:c.[127_138del;160_161de...

ENST00000514944.5:c.[127_138del;161T=]

ENST00000514944.5:c.[127_138del;162T>A]

ENST00000514944.5:c.[127_138del;162T>C]

ENST00000514944.5:c.[127_138del;162T>G]

ENST00000514944.5:c.[127_138del;162T=]

ENST00000514944.5:c.[127_138del;163G=]

ENST00000514944.5:c.[127_138del;164A=]

ENST00000514944.5:c.[127_138del;165T>C]

ENST00000514944.5:c.[127_138del;166_167de...

ENST00000514944.5:c.[127_138del;167C=]

ENST00000514944.5:c.[127_138del;168C>A]

ENST00000514944.5:c.[127_138del;168C>G]

ENST00000514944.5:c.[127_138del;168C>T]

ENST00000514944.5:c.[127_138del;168_181de...

ENST00000514944.5:c.[127_138del;169_182de...

ENST00000514944.5:c.[127_138del;171del;17...

ENST00000514944.5:c.[127_138del;171A=]

ENST00000514944.5:c.[127_138del;171A>C]

ENST00000514944.5:c.[127_138del;171A>G]

ENST00000514944.5:c.[127_138del;171A>T]

ENST00000514944.5:c.[127_138del;171_173de...

ENST00000514944.5:c.[127_138del;171_174de...

ENST00000514944.5:c.[127_138del;171_181de...

ENST00000514944.5:c.[127_138del;172C=]

ENST00000514944.5:c.[127_138del;172_173de...

ENST00000514944.5:c.[127_138del;173C=]

ENST00000514944.5:c.[127_138del;174C>A]

ENST00000514944.5:c.[127_138del;174C>G]

ENST00000514944.5:c.[127_138del;174C>T]

ENST00000514944.5:c.[127_138del;174_177de...

ENST00000514944.5:c.[127_138del;175C=]

ENST00000514944.5:c.[127_138del;175_188de...

ENST00000514944.5:c.[127_138del;176C=]

ENST00000514944.5:c.[127_138del;177del;18...

ENST00000514944.5:c.[127_138del;177G>A]

ENST00000514944.5:c.[127_138del;177G>C]

ENST00000514944.5:c.[127_138del;177G=]

ENST00000514944.5:c.[127_138del;177G>T]

ENST00000514944.5:c.[127_138del;178C=]

ENST00000514944.5:c.[127_138del;179C=]

ENST00000514944.5:c.[127_138del;179_188de...

ENST00000514944.5:c.[127_138del;180C>A]

ENST00000514944.5:c.[127_138del;180C=]

ENST00000514944.5:c.[127_138del;180C>G]

ENST00000514944.5:c.[127_138del;180C>T]

ENST00000514944.5:c.[127_138del;181G=]

ENST00000514944.5:c.[127_138del;181_185de...

ENST00000514944.5:c.[127_138del;182G=]

ENST00000514944.5:c.[127_138del;183C>A]

ENST00000514944.5:c.[127_138del;183C=]

ENST00000514944.5:c.[127_138del;183C>G]

ENST00000514944.5:c.[127_138del;183C>T]

ENST00000514944.5:c.[127_138del;184A=]

ENST00000514944.5:c.[127_138del;184_190de...

ENST00000514944.5:c.[127_138del;185C=]

ENST00000514944.5:c.[127_138del;186C>A]

ENST00000514944.5:c.[127_138del;186C=]

ENST00000514944.5:c.[127_138del;186C>G]

ENST00000514944.5:c.[127_138del;186C>T]

ENST00000514944.5:c.[127_138del;187C>A;18...

ENST00000514944.5:c.[127_138del;187C=]

ENST00000514944.5:c.[127_138del;188G=]

ENST00000514944.5:c.[127_138del;189del;19...

ENST00000514944.5:c.[127_138del;189C>A]

ENST00000514944.5:c.[127_138del;189C=]

ENST00000514944.5:c.[127_138del;189C>G]

ENST00000514944.5:c.[127_138del;189C>T]

ENST00000514944.5:c.[127_138del;190G=]

ENST00000514944.5:c.[127_138del;190_198de...

ENST00000514944.5:c.[127_138del;191T=]

ENST00000514944.5:c.[127_138del;192C>A]

ENST00000514944.5:c.[127_138del;192C=]

ENST00000514944.5:c.[127_138del;192C>G]

ENST00000514944.5:c.[127_138del;192C>T]

ENST00000514944.5:c.[127_138del;192_196de...

ENST00000514944.5:c.[127_138del;193C>A;19...

ENST00000514944.5:c.[127_138del;193C=]

ENST00000514944.5:c.[127_138del;193_195de...

ENST00000514944.5:c.[127_138del;193_199de...

ENST00000514944.5:c.[127_138del;194G=]

ENST00000514944.5:c.[127_138del;194_195de...

ENST00000514944.5:c.[127_138del;195C>A]

ENST00000514944.5:c.[127_138del;195C=]

ENST00000514944.5:c.[127_138del;195C>G]

ENST00000514944.5:c.[127_138del;195C>T]

ENST00000514944.5:c.[127_138del;196G=]

ENST00000514944.5:c.[127_138del;196_197de...

ENST00000514944.5:c.[127_138del;197C=]

ENST00000514944.5:c.[127_138del;198C>A]

ENST00000514944.5:c.[127_138del;198C=]

ENST00000514944.5:c.[127_138del;198C>G]

ENST00000514944.5:c.[127_138del;198C>T]

ENST00000514944.5:c.[127_138del;198_199de...

ENST00000514944.5:c.[127_138del;199A=]

ENST00000514944.5:c.[127_138del;200T=]

ENST00000514944.5:c.[127_138del;201G=]

ENST00000514944.5:c.[127_138del;202G=]

ENST00000514944.5:c.[127_138del;203C=]

ENST00000514944.5:c.[127_138del;203_209de...

ENST00000514944.5:c.[127_138del;204C>A]

ENST00000514944.5:c.[127_138del;204C=]

ENST00000514944.5:c.[127_138del;204C>G]

ENST00000514944.5:c.[127_138del;204C>T]

ENST00000514944.5:c.[127_138del;205A=]

ENST00000514944.5:c.[127_138del;206T=]

ENST00000514944.5:c.[127_138del;207C>A]

ENST00000514944.5:c.[127_138del;207C>T]

ENST00000514944.5:c.[127_138del;207_211de...

ENST00000514944.5:c.[127_138del;208T=]

ENST00000514944.5:c.[127_138del;209A=]

ENST00000514944.5:c.[127_138del;210C=]

ENST00000514944.5:c.[127_138del;210C>T]

ENST00000514944.5:c.[127_138del;210_211de...

ENST00000514944.5:c.[127_138del;211A=]

ENST00000514944.5:c.[127_138del;213G>A]

ENST00000514944.5:c.[127_138del;213G=]

ENST00000514944.5:c.[127_138del;213_214de...

ENST00000514944.5:c.[127_138del;214C=]

ENST00000514944.5:c.[127_138del;215_216in...

ENST00000514944.5:c.[127_138del;216G>A]

ENST00000514944.5:c.[127_138del;216_219de...

ENST00000514944.5:c.[127_138del;216_225de...

ENST00000514944.5:c.[127_138del;217T=]

ENST00000514944.5:c.[127_138del;218C=]