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.

Canonical Allele Identifier: PA1139691384

Gene: PTEN HGNC NCBI

Linked Data

ClinVar Variation Id: 135910

ClinVar RCV Id: RCV000123048 RCV004019704

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001291646.4:p.Tyr351del	CA000504 NM_001304717.5:c.1051_1053del CA000509 NM_001304717.5:c.1053_1054delinsAT CA10581279 NM_001304717.5:c.1050T>G CA211246877 NM_001304717.5:c.1053T>G CA211246883 NM_001304717.5:c.1053T>A CA377484333 NM_001304717.5:c.1047T>A CA377484334 NM_001304717.5:c.1047T>G CA377484345 NM_001304717.5:c.1050T>A CA645369489 NM_001304717.5:c.1047_1053delinsA