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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102312861_102312878delinsTACTTCTGGACTCCGTCC , CM000675.2:g.102312861_102312878delinsTACTTCTGGACTCCGTCC | GRCh38 |
| NC_000013.10:g.102965211_102965228delinsTACTTCTGGACTCCGTCC , CM000675.1:g.102965211_102965228delinsTACTTCTGGACTCCGTCC | GRCh37 |
| NC_000013.9:g.101763212_101763229delinsTACTTCTGGACTCCGTCC | NCBI36 |
| NG_008317.1:g.93897_93914delinsGGACGGAGTCCAGAAGTA | |
| NG_008317.2:g.93897_93914delinsGGACGGAGTCCAGAAGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376131.9:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | ENSP00000365301.3:n.208+88593_208+88610delinsGGACGGAGTCCAGAAG... | |
| ENST00000418923.3:c.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | ENSP00000516414.1:n.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA... | |
| ENST00000706491.1:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | ENSP00000516413.1:n.208+88593_208+88610delinsGGACGGAGTCCAGAAG... | |
| ENST00000706492.1:c.*12+80880_*12+80897delinsGGACGGAGTCCAGAAGTA (FGF14) | ENSP00000516415.1:n.*12+80880_*12+80897delinsGGACGGAGTCCAGAAG... | |
| ENST00000706493.1:c.*107+53567_*107+53584delinsGGACGGAGTCCAGAAGTA (FGF14) | ENSP00000516416.1:n.*107+53567_*107+53584delinsGGACGGAGTCCAGA... | |
| ENST00000706494.1:c.-60+53567_-60+53584delinsGGACGGAGTCCAGAAGTA (FGF14) | ENSP00000516417.1:n.-60+53567_-60+53584delinsGGACGGAGTCCAGAAG... | |
| ENST00000376131.8:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | ENSP00000365301.3:n.208+88593_208+88610delinsGGACGGAGTCCAGAAG... | |
| NM_175929.2:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_787125.1:n.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA | |
| NR_036486.1:n.410-18838_410-18821delinsGGACGGAGTCCAGAAGTA (FGF14-IT1) | ||
| NM_001321935.1:c.-60+4758_-60+4775delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308864.1:n.-60+4758_-60+4775delinsGGACGGAGTCCAGAAGTA | |
| NM_001321936.1:c.-324+4758_-324+4775delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308865.1:n.-324+4758_-324+4775delinsGGACGGAGTCCAGAAGTA | |
| NM_001321937.1:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308866.1:n.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321938.1:c.-225+88593_-225+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308867.1:n.-225+88593_-225+88610delinsGGACGGAGTCCAGAAGT... | |
| NM_001321939.1:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308868.1:n.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321940.1:c.-225+88593_-225+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308869.1:n.-225+88593_-225+88610delinsGGACGGAGTCCAGAAGT... | |
| NM_001321941.1:c.-60-18838_-60-18821delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308870.1:n.-60-18838_-60-18821delinsGGACGGAGTCCAGAAGTA | |
| NM_001321942.1:c.-60+80880_-60+80897delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308871.1:n.-60+80880_-60+80897delinsGGACGGAGTCCAGAAGTA | |
| NM_001321943.1:c.-171+88593_-171+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308872.1:n.-171+88593_-171+88610delinsGGACGGAGTCCAGAAGT... | |
| NM_001321944.1:c.-324+88593_-324+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308873.1:n.-324+88593_-324+88610delinsGGACGGAGTCCAGAAGT... | |
| NM_001321945.1:c.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308874.1:n.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321946.1:c.-60+53567_-60+53584delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308875.1:n.-60+53567_-60+53584delinsGGACGGAGTCCAGAAGTA | |
| NM_001321947.1:c.52+88593_52+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308876.1:n.52+88593_52+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321948.1:c.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308877.1:n.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321949.1:c.-60+53567_-60+53584delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308878.1:n.-60+53567_-60+53584delinsGGACGGAGTCCAGAAGTA | |
| NM_001321938.2:c.-225+88593_-225+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308867.1:n.-225+88593_-225+88610delinsGGACGGAGTCCAGAAGT... | |
| NM_001321945.2:c.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308874.1:n.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321946.2:c.-60+53567_-60+53584delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308875.1:n.-60+53567_-60+53584delinsGGACGGAGTCCAGAAGTA | |
| NM_001321947.2:c.52+88593_52+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308876.1:n.52+88593_52+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321948.2:c.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308877.1:n.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321937.2:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308866.1:n.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321939.2:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308868.1:n.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_001321941.2:c.-60-18838_-60-18821delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001308870.1:n.-60-18838_-60-18821delinsGGACGGAGTCCAGAAGTA | |
| NM_001379342.1:c.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_001366271.1:n.91+88593_91+88610delinsGGACGGAGTCCAGAAGTA | |
| NM_175929.3:c.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA (FGF14) | NP_787125.1:n.208+88593_208+88610delinsGGACGGAGTCCAGAAGTA |