SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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 migration is underway but taking longer than originally estimated.
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 |
|---|---|
| ENSP00000456737.1:p.Ser46_Ter47insArgArgGluCysLeuCysValSerGluValGluMetAlaCysProThrAlaLysGluValThrGlyArgLeuGlyAlaAlaLeuLeuAsnCysValGlnPheCysTyrThrValHisCysProLeuLeuGlyValCysMetTyrGluHisThrCysLeuSerGluArgPheLeuGlyValCysProLeuAlaLeuIleSerProIleProValProThrLeuProGluPhePheTyrProArgSerCysGlnProHisTrpGluSerValCysSerAsnGlyLeuSerCysLeuCysArgGlyAspLeuGluLeuCysThrCysHisTyrTrpGlyGlyValProAlaLeuAlaSerThrMetArgArgProLeuTyrLeuSerSerGlnSerLeuLeuPheLeuLysHisTyrTyrLeuPhePheArgCysLeuProAlaAlaValLeuLeuSerThr |
CA393870649
ENST00000556972.6:c.139T>C
CA393870651
ENST00000556972.6:c.139T>A
|