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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352282_10352283insTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCTGTTTCACCATGTTGGCC , CM000681.2:g.10352282_10352283insTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCTGTTTCACCATGTTGGCC | GRCh38 |
| NC_000019.9:g.10462958_10462959insTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCTGTTTCACCATGTTGGCC , CM000681.1:g.10462958_10462959insTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCTGTTTCACCATGTTGGCC | GRCh37 |
| NC_000019.8:g.10323958_10323959insTTTTTTAATGATACGGCGACCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCTGTTTCACCATGTTGGCC | NCBI36 |
| NG_007872.1:g.33293_33294insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC , LRG_121:g.33293_33294insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1667+154_*1667+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514307.1:n.*1667+154_*1667+155insCAACATGGTGAAACAGATC... | |
| ENST00000525976.6:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000434831.2:n.3318+154_3318+155insCAACATGGTGAAACAGATCGG... | |
| ENST00000527481.3:c.*88+154_*88+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000466340.2:n.*88+154_*88+155insCAACATGGTGAAACAGATCGGAA... | |
| ENST00000529370.6:n.4694+154_4694+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000529739.2:n.4127+154_4127+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000530829.2:c.*2869+154_*2869+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000436826.2:n.*2869+154_*2869+155insCAACATGGTGAAACAGATC... | |
| ENST00000531836.6:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000436175.2:n.3318+154_3318+155insCAACATGGTGAAACAGATCGG... | |
| ENST00000533334.2:c.*1242+646_*1242+647insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000432320.2:n.*1242+646_*1242+647insCAACATGGTGAAACAGATC... | |
| ENST00000534228.2:n.5054+646_5054+647insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699354.1:n.1420+154_1420+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699355.1:c.*2818+154_*2818+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514328.1:n.*2818+154_*2818+155insCAACATGGTGAAACAGATC... | |
| ENST00000699356.1:n.4127+154_4127+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699357.1:n.5172+154_5172+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699358.1:c.3200+646_3200+647insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514329.1:n.3200+646_3200+647insCAACATGGTGAAACAGATCGG... | |
| ENST00000699359.1:c.492+154_492+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699360.1:c.3276+154_3276+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514331.1:n.3276+154_3276+155insCAACATGGTGAAACAGATCGG... | |
| ENST00000699361.1:n.352+154_352+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699362.1:c.214+154_214+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514332.1:n.214+154_214+155insCAACATGGTGAAACAGATCGGAA... | |
| ENST00000699363.1:c.214+154_214+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514333.1:n.214+154_214+155insCAACATGGTGAAACAGATCGGAA... | |
| ENST00000699364.1:n.318+154_318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699365.1:c.387+154_387+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514334.1:n.387+154_387+155insCAACATGGTGAAACAGATCGGAA... | |
| ENST00000699366.1:n.112-1312_112-1311insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699367.1:n.112-1118_112-1117insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000699368.1:c.805+154_805+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000514335.1:n.805+154_805+155insCAACATGGTGAAACAGATCGGAA... | |
| ENST00000525621.6:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC MANE Select | ENSP00000431885.1:n.3318+154_3318+155insCAACATGGTGAAACAGATCGG... | |
| ENST00000264818.10:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000264818.6:n.3318+154_3318+155insCAACATGGTGAAACAGATCGG... | |
| ENST00000524462.5:c.2763+154_2763+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000433203.1:n.2763+154_2763+155insCAACATGGTGAAACAGATCGG... | |
| ENST00000525621.5:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000431885.1:n.3318+154_3318+155insCAACATGGTGAAACAGATCGG... | |
| ENST00000525976.5:c.59+154_59+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000527481.2:c.495+154_495+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000529422.1:n.116+742_116+743insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000530220.1:n.331+646_331+647insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| ENST00000530560.5:c.338-1312_338-1311insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ENSP00000465291.1:n.338-1312_338-1311insCAACATGGTGAAACAGATCGG... | |
| ENST00000592137.1:n.472+154_472+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| NM_003331.4:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC , LRG_121t1:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_003322.3:n.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGC... | |
| XM_011528245.1:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526547.1:n.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAG... | |
| XM_011528246.1:c.3021+154_3021+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526548.1:n.3021+154_3021+155insCAACATGGTGAAACAGATCGGAAG... | |
| XM_011528247.1:c.3021+154_3021+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526549.1:n.3021+154_3021+155insCAACATGGTGAAACAGATCGGAAG... | |
| XM_011528248.1:c.3200+646_3200+647insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526550.1:n.3200+646_3200+647insCAACATGGTGAAACAGATCGGAAG... | |
| XM_011528249.1:c.1992+154_1992+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526551.1:n.1992+154_1992+155insCAACATGGTGAAACAGATCGGAAG... | |
| XM_011528251.1:c.1575+154_1575+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526553.1:n.1575+154_1575+155insCAACATGGTGAAACAGATCGGAAG... | |
| XM_011528246.3:c.3021+154_3021+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526548.1:n.3021+154_3021+155insCAACATGGTGAAACAGATCGGAAG... | |
| XM_011528249.2:c.1992+154_1992+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | XP_011526551.1:n.1992+154_1992+155insCAACATGGTGAAACAGATCGGAAG... | |
| XR_001753750.1:n.3357+646_3357+647insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| XR_001753751.1:n.3870+154_3870+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| XR_002958353.1:n.4796+154_4796+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | ||
| NM_003331.5:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC MANE Select | NP_003322.3:n.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGC... | |
| NM_001385197.1:c.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372126.1:n.3318+154_3318+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385198.1:c.3168+678_3168+679insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372127.1:n.3168+678_3168+679insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385199.1:c.3132+154_3132+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372128.1:n.3132+154_3132+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385200.1:c.3315+154_3315+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372129.1:n.3315+154_3315+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385201.1:c.3120+154_3120+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372130.1:n.3120+154_3120+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385202.1:c.3234+154_3234+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372131.1:n.3234+154_3234+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385203.1:c.3399+154_3399+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372132.1:n.3399+154_3399+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385204.1:c.3528+154_3528+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372133.1:n.3528+154_3528+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385205.1:c.3228+154_3228+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372134.1:n.3228+154_3228+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385206.1:c.3192+154_3192+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372135.1:n.3192+154_3192+155insCAACATGGTGAAACAGATCGGAAG... | |
| NM_001385207.1:c.3300+154_3300+155insCAACATGGTGAAACAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAGGC | NP_001372136.1:n.3300+154_3300+155insCAACATGGTGAAACAGATCGGAAG... |