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_000009.12:g.115034861_115034862insCAAGAATTTTCTTTCTTTTACCTTTTA , CM000671.2:g.115034861_115034862insCAAGAATTTTCTTTCTTTTACCTTTTA | GRCh38 |
| NC_000009.11:g.117797140_117797141insCAAGAATTTTCTTTCTTTTACCTTTTA , CM000671.1:g.117797140_117797141insCAAGAATTTTCTTTCTTTTACCTTTTA | GRCh37 |
| NC_000009.10:g.116836961_116836962insCAAGAATTTTCTTTCTTTTACCTTTTA | NCBI36 |
| NG_029637.1:g.88396_88397insTAAAAGGTAAAAGAAAGAAAATTCTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537320.6:c.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000443478.1:n.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000542877.6:c.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000442242.1:n.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000705190.1:c.2730+342_2730+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000516083.1:n.2730+342_2730+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000705191.1:c.1386+342_1386+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000516084.1:n.1386+342_1386+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000705192.1:c.4745+342_4745+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ||
| ENST00000350763.9:c.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAATTCTTG MANE Select | ENSP00000265131.4:n.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000341037.8:c.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000339553.4:n.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000350763.8:c.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000265131.4:n.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000423613.6:c.4968+342_4968+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000411406.2:n.4968+342_4968+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000460345.1:n.369+342_369+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ||
| ENST00000535648.5:c.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000438152.2:n.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000537320.5:c.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000443478.1:n.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000542877.5:c.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ENSP00000442242.1:n.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAA... | |
| ENST00000544972.1:c.1474+342_1474+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | ||
| NM_002160.3:c.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | NP_002151.2:n.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAATTCTTG... | |
| XM_005251972.2:c.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252029.1:n.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_005251973.2:c.4695+342_4695+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252030.1:n.4695+342_4695+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_005251974.2:c.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252031.1:n.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_005251975.2:c.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252032.1:n.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717096.2:c.6063+342_6063+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717159.1:n.6063+342_6063+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717097.2:c.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717160.1:n.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717098.2:c.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717161.1:n.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717100.2:c.4968+342_4968+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717163.1:n.4968+342_4968+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717101.2:c.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717164.1:n.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518622.1:c.5790+342_5790+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516924.1:n.5790+342_5790+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518623.1:c.5790+342_5790+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516925.1:n.5790+342_5790+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518624.1:c.5244+342_5244+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516926.1:n.5244+342_5244+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518625.1:c.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516927.1:n.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518626.1:c.4971+342_4971+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516928.1:n.4971+342_4971+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518627.1:c.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516929.1:n.4698+342_4698+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518628.1:c.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516930.1:n.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518629.1:c.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516931.1:n.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_005251972.4:c.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252029.1:n.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_005251973.4:c.4695+342_4695+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252030.1:n.4695+342_4695+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_005251974.4:c.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252031.1:n.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_005251975.4:c.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_005252032.1:n.3876+342_3876+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717096.4:c.6063+342_6063+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717159.1:n.6063+342_6063+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717097.4:c.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717160.1:n.5514+342_5514+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717098.4:c.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717161.1:n.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_006717101.4:c.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_006717164.1:n.4149+342_4149+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518625.3:c.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516927.1:n.5241+342_5241+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518626.3:c.4971+342_4971+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516928.1:n.4971+342_4971+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518628.3:c.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516930.1:n.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_011518629.3:c.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_011516931.1:n.4422+342_4422+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_017014678.2:c.6336+342_6336+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_016870167.1:n.6336+342_6336+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_017014679.2:c.6063+342_6063+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_016870168.1:n.6063+342_6063+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_017014680.2:c.6060+342_6060+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_016870169.1:n.6060+342_6060+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_017014681.2:c.5244+342_5244+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_016870170.1:n.5244+342_5244+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| XM_024447530.1:c.6336+342_6336+343insTAAAAGGTAAAAGAAAGAAAATTCTTG | XP_024303298.1:n.6336+342_6336+343insTAAAAGGTAAAAGAAAGAAAATTC... | |
| NM_002160.4:c.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAATTCTTG MANE Select | NP_002151.2:n.5787+342_5787+343insTAAAAGGTAAAAGAAAGAAAATTCTTG... |