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.17395595G= , CM000673.2:g.17395595G= | GRCh38 |
| NC_000011.9:g.17417142G= , CM000673.1:g.17417142G= | GRCh37 |
| NC_000011.8:g.17373718G= | NCBI36 |
| NG_008867.1:g.86308C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3908+15C= | ||
| ENST00000528374.2:c.898+15C= | ||
| ENST00000529967.6:n.2646+15C= | ||
| ENST00000532220.2:n.3540+15C= | ||
| ENST00000642611.2:n.5640+15C= | ||
| ENST00000644057.2:n.883+15C= | ||
| ENST00000645004.2:n.1806+15C= | ||
| ENST00000682051.1:n.4469+15C= | ||
| ENST00000682110.1:n.4522+15C= | ||
| ENST00000682140.1:c.*93+15C= | ENSP00000507829.1:n.*93+15C= | |
| ENST00000682185.1:n.5612+15C= | ||
| ENST00000682204.1:c.*2445+15C= | ENSP00000507094.1:n.*2445+15C= | |
| ENST00000682215.1:n.4889+15C= | ||
| ENST00000682288.1:c.*2738+15C= | ENSP00000507506.1:n.*2738+15C= | |
| ENST00000682442.1:n.4742+15C= | ||
| ENST00000682528.1:n.4599+15C= | ||
| ENST00000682673.1:n.4466+15C= | ||
| ENST00000682805.1:n.4927+15C= | ||
| ENST00000682965.1:c.*729+15C= | ENSP00000508229.1:n.*729+15C= | |
| ENST00000683093.1:n.5606+15C= | ||
| ENST00000683136.1:c.4190+15C= | ENSP00000507768.1:n.4190+15C= | |
| ENST00000683153.1:n.4564+15C= | ||
| ENST00000683365.1:n.4624+15C= | ||
| ENST00000683377.1:n.4522+15C= | ||
| ENST00000683456.1:c.*1444+15C= | ENSP00000508318.1:n.*1444+15C= | |
| ENST00000683522.1:n.4522+15C= | ||
| ENST00000683562.1:c.*2476+15C= | ENSP00000508265.1:n.*2476+15C= | |
| ENST00000683693.1:n.6087+15C= | ||
| ENST00000683725.1:c.4307+15C= | ENSP00000507496.1:n.4307+15C= | |
| ENST00000684010.1:n.4517+15C= | ||
| ENST00000684157.1:n.5507+15C= | ||
| ENST00000684253.1:n.4425+15C= | ||
| ENST00000684288.1:c.*2479+15C= | ENSP00000507143.1:n.*2479+15C= | |
| ENST00000684313.1:n.3954+15C= | ||
| ENST00000684332.1:n.4595+15C= | ||
| ENST00000684371.1:n.4628+15C= | ||
| ENST00000684404.1:n.5550+15C= | ||
| ENST00000684442.1:n.4746+15C= | ||
| ENST00000684555.1:c.*2519+15C= | ENSP00000507705.1:n.*2519+15C= | |
| ENST00000684571.1:c.4148+15C= | ENSP00000506935.1:n.4148+15C= | |
| ENST00000684593.1:c.*4012+15C= | ENSP00000507005.1:n.*4012+15C= | |
| ENST00000684711.1:c.*2703+15C= | ENSP00000506841.1:n.*2703+15C= | |
| ENST00000302539.9:c.4310+15C= | ENSP00000303960.4:n.4310+15C= | |
| ENST00000389817.8:c.4307+15C= MANE Select | ENSP00000374467.4:n.4307+15C= | |
| ENST00000642271.1:c.4304+15C= | ENSP00000493749.1:n.4304+15C= | |
| ENST00000642579.1:c.2361+15C= | ||
| ENST00000642611.1:n.5525+15C= | ||
| ENST00000642902.1:c.4089+15C= | ||
| ENST00000643260.1:c.4307+15C= | ENSP00000494450.1:n.4307+15C= | |
| ENST00000643562.1:c.*2429+15C= | ENSP00000496124.1:n.*2429+15C= | |
| ENST00000643925.1:c.2947+15C= | ||
| ENST00000644057.1:n.384+15C= | ||
| ENST00000644484.1:c.*3693+15C= | ENSP00000493558.1:n.*3693+15C= | |
| ENST00000644675.1:c.*2479+15C= | ENSP00000494567.1:n.*2479+15C= | |
| ENST00000644757.1:c.*3202+669C= | ENSP00000495085.1:n.*3202+669C= | |
| ENST00000644772.1:c.4373+15C= | ENSP00000494321.1:n.4373+15C= | |
| ENST00000645004.1:n.2000+15C= | ||
| ENST00000645076.1:c.3506+15C= | ||
| ENST00000645417.1:c.1495+15C= | ||
| ENST00000645744.1:c.*3992+15C= | ENSP00000494564.1:n.*3992+15C= | |
| ENST00000645760.1:c.4728+15C= | ||
| ENST00000645884.1:c.*1590+15C= | ENSP00000495516.1:n.*1590+15C= | |
| ENST00000646003.1:c.*2329+15C= | ENSP00000495259.1:n.*2329+15C= | |
| ENST00000646207.1:c.*3144+15C= | ENSP00000495025.1:n.*3144+15C= | |
| ENST00000646276.1:c.*3711+15C= | ENSP00000496070.1:n.*3711+15C= | |
| ENST00000646592.1:c.3613+15C= | ||
| ENST00000646902.1:c.4274+15C= | ENSP00000494101.1:n.4274+15C= | |
| ENST00000646993.1:c.*2849+15C= | ENSP00000493720.1:n.*2849+15C= | |
| ENST00000647013.1:c.4313+15C= | ENSP00000496741.1:n.4313+15C= | |
| ENST00000647015.1:c.4058+15C= | ENSP00000495389.1:n.4058+15C= | |
| ENST00000647086.1:c.*3893+15C= | ENSP00000493677.1:n.*3893+15C= | |
| ENST00000647158.1:c.*2594+15C= | ENSP00000495744.1:n.*2594+15C= | |
| ENST00000302539.8:c.4310+15C= | ENSP00000303960.4:n.4310+15C= | |
| ENST00000389817.7:c.4307+15C= | ENSP00000374467.3:n.4307+15C= | |
| ENST00000525022.1:n.306+15C= | ||
| ENST00000526037.5:n.171+15C= | ||
| ENST00000526168.5:c.95+15C= | ||
| ENST00000531642.5:c.143+15C= | ||
| NM_000352.4:c.4307+15C= | NP_000343.2:n.4307+15C= | |
| NM_001287174.1:c.4310+15C= | NP_001274103.1:n.4310+15C= | |
| XM_011520331.1:c.4307+15C= | XP_011518633.1:n.4307+15C= | |
| XM_011520332.1:c.4310+15C= | XP_011518634.1:n.4310+15C= | |
| XM_011520333.1:c.2807+15C= | XP_011518635.1:n.2807+15C= | |
| XR_930890.1:n.4373+15C= | ||
| NM_001351295.1:c.4373+15C= | NP_001338224.1:n.4373+15C= | |
| NM_001351296.1:c.4307+15C= | NP_001338225.1:n.4307+15C= | |
| NM_001351297.1:c.4304+15C= | NP_001338226.1:n.4304+15C= | |
| NR_147094.1:n.4602+15C= | ||
| XM_017018197.2:c.4376+15C= | XP_016873686.1:n.4376+15C= | |
| XM_017018199.1:c.4373+15C= | XP_016873688.1:n.4373+15C= | |
| XM_017018201.2:c.4376+15C= | XP_016873690.1:n.4376+15C= | |
| XM_017018202.1:c.2873+15C= | XP_016873691.1:n.2873+15C= | |
| XM_017018204.1:c.2264+15C= | XP_016873693.1:n.2264+15C= | |
| XM_024448668.1:c.2675+15C= | XP_024304436.1:n.2675+15C= | |
| XR_001747945.2:n.4448+15C= | ||
| XR_001747946.2:n.4379+15C= | ||
| XR_002957189.1:n.6162+15C= | ||
| NM_000352.6:c.4307+15C= MANE Select | NP_000343.2:n.4307+15C= | |
| NM_001287174.2:c.4310+15C= | NP_001274103.1:n.4310+15C= | |
| NM_001351295.2:c.4373+15C= | NP_001338224.1:n.4373+15C= | |
| NM_001351296.2:c.4307+15C= | NP_001338225.1:n.4307+15C= | |
| NM_001351297.2:c.4304+15C= | NP_001338226.1:n.4304+15C= | |
| NR_147094.2:n.4602+15C= | ||
| NM_001287174.3:c.4310+15C= | NP_001274103.1:n.4310+15C= |