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
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000495001.2:p.Leu48_Ter49insCysGlyThrThrValArgAspTyrThrGlnMetAsnGluLeuGlnArgArgLeuGlyProArgGlyLeuValValLeuGlyPheProCysAsnGlnPheGlyHisGlnLeuProPheSerProValGlyGluArgGlnGluArgArgAspSerGluPheProGlnValArgProAlaTrpTrpTrpValArgAlaGlnLeuHisAlaLeuArgGluValArgGlyGluArgCysGlyGlyAlaProSerLeuArgLeuProAlaGlyGlyProAlaSerSerGlnArgArgArgHisArgAlaTyrAspArgProGlnAlaHisHisLeuValSerGlyValSerGlnArgCysCysLeuGluLeu |
CA352783341
ENST00000646881.3:c.147A>T
CA352783343
ENST00000646881.3:c.147A>C
|