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_000011.10:g.14879087_14879088insAACACAGAACTGATTCTAACAGGAGAGAATGATTAAATTGGAA , CM000673.2:g.14879087_14879088insAACACAGAACTGATTCTAACAGGAGAGAATGATTAAATTGGAA | GRCh38 |
| NC_000011.9:g.14900633_14900634insAACACAGAACTGATTCTAACAGGAGAGAATGATTAAATTGGAA , CM000673.1:g.14900633_14900634insAACACAGAACTGATTCTAACAGGAGAGAATGATTAAATTGGAA | GRCh37 |
| NC_000011.8:g.14857209_14857210insAACACAGAACTGATTCTAACAGGAGAGAATGATTAAATTGGAA | NCBI36 |
| NG_007936.1:g.18120_18121insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT MANE Select | ENSP00000334592.5:n.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGT... | |
| ENST00000334636.9:c.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ENSP00000334592.5:n.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGT... | |
| ENST00000525015.1:c.160+28_160+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| ENST00000530609.5:c.*926+28_*926+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ENSP00000466060.1:n.*926+28_*926+29insCCAATTTAATCATTCTCTCCTGT... | |
| ENST00000532378.5:c.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ENSP00000435484.1:n.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTA... | |
| ENST00000532805.1:c.*438+28_*438+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ENSP00000465097.1:n.*438+28_*438+29insCCAATTTAATCATTCTCTCCTGT... | |
| ENST00000534686.5:c.*690+28_*690+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ENSP00000432087.2:n.*690+28_*690+29insCCAATTTAATCATTCTCTCCTGT... | |
| NM_024514.4:c.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_078790.2:n.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGTTAGAAT... | |
| XM_005252788.1:c.1186+28_1186+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_005252845.1:n.1186+28_1186+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| XM_005252789.2:c.1168+28_1168+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_005252846.1:n.1168+28_1168+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| XM_005252791.3:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_005252848.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_006718142.2:c.1285+28_1285+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_006718205.1:n.1285+28_1285+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| XM_011519894.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_011518196.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_011519895.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_011518197.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_011519896.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_011518198.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_011519897.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_011518199.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_011519898.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_011518200.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XR_242777.2:n.1147+28_1147+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| XM_005252788.2:c.1186+28_1186+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_005252845.1:n.1186+28_1186+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| XM_005252789.3:c.1168+28_1168+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_005252846.1:n.1168+28_1168+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| XM_011519895.2:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_011518197.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_011519898.3:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_011518200.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_017017190.2:c.1165+28_1165+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_016872679.1:n.1165+28_1165+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| XM_017017191.2:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_016872680.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_017017192.2:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_016872681.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_017017193.2:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_016872682.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_017017194.2:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_016872683.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_024448345.1:c.1165+28_1165+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_024304113.1:n.1165+28_1165+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| XM_024448346.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_024304114.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_024448347.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_024304115.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XM_024448348.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | XP_024304116.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| XR_002957123.1:n.1110+28_1110+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| XR_002957124.1:n.1376+28_1376+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| XR_242777.3:n.1147+28_1147+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NM_001377214.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001364143.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001377215.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001364144.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001377216.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001364145.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001377217.1:c.1168+28_1168+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001364146.1:n.1168+28_1168+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| NM_001377227.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001364156.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_024514.5:c.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT MANE Select | NP_078790.2:n.1330+28_1330+29insCCAATTTAATCATTCTCTCCTGTTAGAAT... | |
| NM_001400558.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387487.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400559.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387488.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400560.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387489.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400561.1:c.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387490.1:n.985+28_985+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400562.1:c.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387491.1:n.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400563.1:c.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387492.1:n.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400564.1:c.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387493.1:n.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400565.1:c.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387494.1:n.631+28_631+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400566.1:c.352+28_352+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387495.1:n.352+28_352+29insCCAATTTAATCATTCTCTCCTGTTAGAA... | |
| NM_001400567.1:c.1186+28_1186+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387496.1:n.1186+28_1186+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| NM_001400568.1:c.1285+28_1285+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | NP_001387497.1:n.1285+28_1285+29insCCAATTTAATCATTCTCTCCTGTTAG... | |
| NR_174512.1:n.1197+28_1197+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174513.1:n.1046+28_1046+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174514.1:n.1421+28_1421+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174515.1:n.1830+28_1830+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174516.1:n.1008+28_1008+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174517.1:n.544+28_544+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174518.1:n.1641+28_1641+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174519.1:n.1388+28_1388+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174520.1:n.1179+28_1179+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174521.1:n.1679+28_1679+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174522.1:n.1177+28_1177+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT | ||
| NR_174523.1:n.1588+28_1588+29insCCAATTTAATCATTCTCTCCTGTTAGAATCAGTTCTGTGTTTT |