SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
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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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000354687.2:p.[Leu61delinsProArgHisIleTyrHisHisProLysProAlaThrSerThrIleThrLeuTyrIleThrAlaProThrLeuAlaLeuThrIleAlaLeuLeuLeuTer;Thr87_Pro90delinsLeuHisHisArgProLeuProIleProAsnProLeuValAsnLeuAsnLeuGlyLeuLeuPheIleLeuAlaThrSerSerLeuAlaValTyrSerIleLeuTer;Pro92_Asn93delinsThrAlaAsnProLeuValAsnLeuAsnLeuGlyLeuLeuPheIleLeuAlaThrSerSerLeuAlaValTyrSerIleLeuTer;Leu95_Asn97delinsThrValAsnLeuAsnLeuGlyLeuLeuPheIleLeuAlaThrSerSerLeuAlaValTyrSerIleLeuTer;Asn99delinsAlaLeuGlyLeuLeuPheIleLeuAlaThrSerSerLeuAlaValTyrSerIleLeuTer;Gly101_Phe104delinsThrLeuLeuPheIleLeuAlaThrSerSerLeuAlaValTyrSerIleLeuTer;Leu106delinsAlaThrSerSerLeuAlaValTyrSerIleLeuTer;Thr108_Ser110delinsLeuSerSerLeuAlaValTyrSerIleLeuTer;Ala112_Ile116delinsValTyrSerIleLeuTer;Ser119_Ala128delinsProAspGlyTer;Ile130_Gly131delinsGlyAlaLeuArgAlaValAlaGlnThrIleSerTyrGluValThrLeuAlaIleIleLeuLeuSerThrLeuLeuIleSerGlySerPheAsnLeuSerThrLeuIleThrThrGlnGluHisLeuTer;Arg134_Gln138delinsAlaValAlaGlnThrIleSerTyrGluValThrLeuAlaIleIleLeuLeuSerThrLeuLeuIleSerGlySerPheAsnLeuSerThrLeuIleThrThrGlnGluHisLeuTer;Ser141_Thr145delinsAlaLeuLeuTyrGluValThrLeuAlaIleIleLeuLeuSerThrLeuLeuIleSerGlySerPheAsnLeuSerThrLeuIleThrThrGlnGluHisLeuTer;Ala147_Ile149delinsTerIleIleLeuLeuSerThrLeuLeuIleSerGlySerPheAsnLeuSerThrLeuIleThrThrGlnGluHisLeuTer;Leu151delinsSerSerThrLeuLeuIleSerGlySerPheAsnLeuSerThrLeuIleThrThrGlnGluHisLeuTer;Thr153_Ile156delinsHisHisArgSerLeuLeuIleSerGlySerPheAsnLeuSerThrLeuIleThrThrGlnGluHisLeuTer;Gly158_Phe160delinsThrMetSerPheAsnLeuSerThrLeuIleThrThrGlnGluHisLeuTer;Ser163delinsThrLeuIleThrThrGlnGluHisLeuTer;Leu165delinsIleThrThrGlnGluHisLeuTer;Thr167_His171delinsAlaThrGlnGluHisLeuTer;Leu172_Ter173insLeuLeuLeuProSer;Leu176delinsTerProSerTer;Ser178Pro;Leu181_Ala182delinsAlaIleIleTer;Ile184_Thr189delinsProAsnProLeuValAsnTer;Ala191_Thr193delinsGluThrAsnArgThrProPheAspLeuAlaGluGlyGluSerGluLeuValSerGlyPheAsnIleGluTyrAlaAlaGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Arg195_Asp199delinsThrProPheAspLeuAlaGluGlyGluSerGluLeuValSerGlyPheAsnIleGluTyrAlaAlaGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Ala201_Glu202delinsGluGlyGluSerGluLeuValSerGlyPheAsnIleGluTyrAlaAlaGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Glu204_Glu206delinsLeuSerGluLeuValSerGlyPheAsnIleGluTyrAlaAlaGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Val208_Gly210delinsSerGlyPheAsnIleGluTyrAlaAlaGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Asn212delinsIleGluTyrAlaAlaGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Glu214_Tyr215delinsLeuTyrAlaAlaGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Ala217_Ala221delinsThrSerSerGlyProPheAlaLeuPhePheIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Phe224_Ile225delinsIleAlaGluTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Glu227delinsValTyrThrAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Thr229_Asn230delinsSerAsnIleIleIleIleAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Ile234_Thr236delinsAsnThrLeuThrThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Thr238_Gly244delinsTerProHisThrThrIlePheLeuGlyThrThrTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Thr246_Ser251delinsProAsnTyrAspAlaLeuSerProGluLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Glu253delinsLeuTyrThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Tyr255_Phe259delinsThrThrTyrPheValThrLysThrLeuLeuLeuThrSerLeuPheLeuTer;Thr261_Thr263delinsAsnLysThrLeuLeuLeuThrSerLeuPheLeuTer;Leu265delinsAsnLeuThrSerLeuPheLeuTer;Thr267_Ser268delinsGlySerLeuPheLeuTer;Phe270delinsLeuTer;Ter272_Arg279delinsIleArgThrAlaTyrProArgPheArgTyrAspGlnLeuIleHisLeuLeuTer;Arg281_Leu285delinsTyrAspGlnLeuIleHisLeuLeuTer;His287delinsLeuLeuTer;Leu289_Phe293delinsAlaThrSerSerTer;Pro295_Leu298delinsLeuThrLeuAlaLeuLeuIleTer;Leu300Val;Val305del;Pro308_X319delinsLeu] |