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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51939168_51939169insGCAGAGCCAGCGGCAGGCGCTTCATTCTTGCCGCAGGCGGCCAGCATGGCGGCAGCGGCCAGGGCCGCCAGAACGAGAGATTTATCGAAGGACTTGTTCATTTTGTGAACCTCCATGAGTCACGAAT , CM000675.2:g.51939168_51939169insGCAGAGCCAGCGGCAGGCGCTTCATTCTTGCCGCAGGCGGCCAGCATGGCGGCAGCGGCCAGGGCCGCCAGAACGAGAGATTTATCGAAGGACTTGTTCATTTTGTGAACCTCCATGAGTCACGAAT | GRCh38 |
| NC_000013.10:g.52513304_52513305insGCAGAGCCAGCGGCAGGCGCTTCATTCTTGCCGCAGGCGGCCAGCATGGCGGCAGCGGCCAGGGCCGCCAGAACGAGAGATTTATCGAAGGACTTGTTCATTTTGTGAACCTCCATGAGTCACGAAT , CM000675.1:g.52513304_52513305insGCAGAGCCAGCGGCAGGCGCTTCATTCTTGCCGCAGGCGGCCAGCATGGCGGCAGCGGCCAGGGCCGCCAGAACGAGAGATTTATCGAAGGACTTGTTCATTTTGTGAACCTCCATGAGTCACGAAT | GRCh37 |
| NC_000013.9:g.51411305_51411306insGCAGAGCCAGCGGCAGGCGCTTCATTCTTGCCGCAGGCGGCCAGCATGGCGGCAGCGGCCAGGGCCGCCAGAACGAGAGATTTATCGAAGGACTTGTTCATTTTGTGAACCTCCATGAGTCACGAAT | NCBI36 |
| NG_008806.1:g.77326_77327insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1231_*1232insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000489512.2:n.*1231_*1232insATTCGTGACTCATGGAGGTTCACAAAA... | |
| ENST00000673864.2:c.*2325_*2326insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000501045.2:n.*2325_*2326insATTCGTGACTCATGGAGGTTCACAAAA... | |
| ENST00000674147.2:c.2960_2961insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000500964.2:p.Ala988PhefsTer15 | |
| ENST00000242839.10:c.3581_3582insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC MANE Select | ENSP00000242839.5:p.Ala1195PhefsTer15 | |
| ENST00000344297.9:c.2960_2961insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000342559.5:p.Ala988PhefsTer15 | |
| ENST00000400366.6:c.3248_3249insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000383217.3:p.Ala1084PhefsTer15 | |
| ENST00000448424.7:c.3329_3330insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000416738.3:p.Ala1111PhefsTer15 | |
| ENST00000673696.1:n.822_823insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| ENST00000673772.1:c.3347_3348insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000501168.1:p.Ala1117PhefsTer15 | |
| ENST00000673867.1:n.3720_3721insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| ENST00000673923.1:n.447_448insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| ENST00000674147.1:c.2516_2517insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000500964.1:p.Ala840PhefsTer15 | |
| ENST00000242839.8:c.3581_3582insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000242839.4:p.Ala1195PhefsTer15 | |
| ENST00000344297.8:c.2960_2961insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000342559.5:p.Ala988PhefsTer15 | |
| ENST00000400366.5:c.3248_3249insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000383217.3:p.Ala1084PhefsTer15 | |
| ENST00000400370.8:c.2291_2292insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000383221.3:p.Ala765PhefsTer15 | |
| ENST00000418097.7:c.3386_3387insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000393343.2:p.Ala1130PhefsTer15 | |
| ENST00000448424.6:c.3347_3348insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000416738.2:p.Ala1117PhefsTer15 | |
| ENST00000634296.1:c.1359_1360insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| ENST00000634308.1:c.*682_*683insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000489234.1:n.*682_*683insATTCGTGACTCATGGAGGTTCACAAAATG... | |
| ENST00000634620.1:n.4325_4326insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| ENST00000634810.1:n.2926_2927insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| ENST00000634844.1:c.3437_3438insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ENSP00000489398.1:p.Ala1147PhefsTer15 | |
| NM_000053.3:c.3581_3582insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_000044.2:p.Ala1195PhefsTer15 | |
| NM_001005918.2:c.2960_2961insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001005918.1:p.Ala988PhefsTer15 | |
| NM_001243182.1:c.3248_3249insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001230111.1:p.Ala1084PhefsTer15 | |
| XM_005266423.2:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266480.1:p.Ala1163PhefsTer15 | |
| XM_005266424.3:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266481.1:p.Ala1163PhefsTer15 | |
| XM_005266427.2:c.3347_3348insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266484.1:p.Ala1117PhefsTer15 | |
| XM_005266428.1:c.3329_3330insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266485.1:p.Ala1111PhefsTer15 | |
| XM_005266430.3:c.3581_3582insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266487.1:p.Ala1195PhefsTer15 | |
| XM_005266431.2:c.3545_3546insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266488.1:p.Ala1183PhefsTer15 | |
| XM_005266432.2:c.3095_3096insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266489.1:p.Ala1033PhefsTer15 | |
| XM_006719837.2:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_006719900.1:p.Ala1163PhefsTer15 | |
| XM_006719838.1:c.1397_1398insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_006719901.1:p.Ala467PhefsTer15 | |
| XM_006719839.1:c.1214_1215insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_006719902.1:p.Ala406PhefsTer15 | |
| XM_011535117.1:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_011533419.1:p.Ala1163PhefsTer15 | |
| XM_011535118.1:c.3446_3447insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_011533420.1:p.Ala1150PhefsTer15 | |
| XM_011535119.1:c.3398_3399insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_011533421.1:p.Ala1134PhefsTer15 | |
| XM_011535120.1:c.3167_3168insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_011533422.1:p.Ala1057PhefsTer15 | |
| XM_011535121.1:c.3068_3069insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_011533423.1:p.Ala1024PhefsTer15 | |
| XM_011535122.1:c.2249_2250insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_011533424.1:p.Ala751PhefsTer15 | |
| XR_941601.1:n.3800_3801insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| XR_941602.1:n.3800_3801insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| XR_941603.1:n.3800_3801insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| XR_941604.1:n.3800_3801insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | ||
| NM_001330578.1:c.3347_3348insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001317507.1:p.Ala1117PhefsTer15 | |
| NM_001330579.1:c.3329_3330insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001317508.1:p.Ala1111PhefsTer15 | |
| XM_005266424.4:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266481.1:p.Ala1163PhefsTer15 | |
| XM_005266430.4:c.3581_3582insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266487.1:p.Ala1195PhefsTer15 | |
| XM_005266431.4:c.3545_3546insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_005266488.1:p.Ala1183PhefsTer15 | |
| XM_006719837.3:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_006719900.1:p.Ala1163PhefsTer15 | |
| XM_011535117.3:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_011533419.1:p.Ala1163PhefsTer15 | |
| XM_017020627.1:c.3485_3486insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | XP_016876116.1:p.Ala1163PhefsTer15 | |
| NM_000053.4:c.3581_3582insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC MANE Select | NP_000044.2:p.Ala1195PhefsTer15 | |
| NM_001005918.3:c.2960_2961insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001005918.1:p.Ala988PhefsTer15 | |
| NM_001330579.2:c.3329_3330insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001317508.1:p.Ala1111PhefsTer15 | |
| NM_001243182.2:c.3248_3249insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001230111.1:p.Ala1084PhefsTer15 | |
| NM_001330578.2:c.3347_3348insATTCGTGACTCATGGAGGTTCACAAAATGAACAAGTCCTTCGATAAATCTCTCGTTCTGGCGGCCCTGGCCGCTGCCGCCATGCTGGCCGCCTGCGGCAAGAATGAAGCGCCTGCCGCTGGCTCTGC | NP_001317507.1:p.Ala1117PhefsTer15 |