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.
Linked Data
gnomAD v4:
11-17396524-G-GATTCCTTTTGCTGCCATCCACT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396524_17396525insATTCCTTTTGCTGCCATCCACT , CM000673.2:g.17396524_17396525insATTCCTTTTGCTGCCATCCACT | GRCh38 |
| NC_000011.9:g.17418071_17418072insATTCCTTTTGCTGCCATCCACT , CM000673.1:g.17418071_17418072insATTCCTTTTGCTGCCATCCACT | GRCh37 |
| NC_000011.8:g.17374647_17374648insATTCCTTTTGCTGCCATCCACT | NCBI36 |
| NG_008867.1:g.85378_85379insAGTGGATGGCAGCAAAAGGAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3720+391_3720+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000528374.2:c.710+391_710+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000529967.6:n.2458+391_2458+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000532220.2:n.2758_2759insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000642611.2:n.4725_4726insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000644057.2:n.562+391_562+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000645004.2:n.1618+391_1618+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682051.1:n.4281+391_4281+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682110.1:n.4334+391_4334+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682140.1:c.3986-595_3986-594insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507829.1:n.3986-595_3986-594insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000682185.1:n.5424+391_5424+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682204.1:c.*2257+391_*2257+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507094.1:n.*2257+391_*2257+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000682215.1:n.4701+391_4701+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682288.1:c.*2550+391_*2550+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507506.1:n.*2550+391_*2550+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000682442.1:n.4554+391_4554+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682528.1:n.4411+391_4411+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682673.1:n.4278+391_4278+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682805.1:n.4739+353_4739+354insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000682965.1:c.*541+391_*541+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000508229.1:n.*541+391_*541+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000683093.1:n.4824_4825insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000683136.1:c.4002+391_4002+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507768.1:n.4002+391_4002+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000683153.1:n.4376+391_4376+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000683365.1:n.4436+391_4436+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000683377.1:n.4334+391_4334+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000683456.1:c.*1256+391_*1256+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000508318.1:n.*1256+391_*1256+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000683522.1:n.4334+391_4334+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000683562.1:c.*2288+391_*2288+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000508265.1:n.*2288+391_*2288+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000683693.1:n.5172_5173insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000683725.1:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507496.1:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000684010.1:n.4329+391_4329+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684157.1:n.4725_4726insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684253.1:n.4237+391_4237+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684288.1:c.*2291+391_*2291+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507143.1:n.*2291+391_*2291+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000684313.1:n.3766+391_3766+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684332.1:n.4407+391_4407+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684371.1:n.4440+391_4440+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684404.1:n.4768_4769insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684442.1:n.4558+391_4558+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000684555.1:c.*2331+391_*2331+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507705.1:n.*2331+391_*2331+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000684571.1:c.3960+391_3960+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000506935.1:n.3960+391_3960+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000684593.1:c.*3824+391_*3824+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000507005.1:n.*3824+391_*3824+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000684711.1:c.*2515+391_*2515+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000506841.1:n.*2515+391_*2515+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000302539.9:c.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000303960.4:n.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000389817.8:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT MANE Select | ENSP00000374467.4:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000642271.1:c.4116+391_4116+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000493749.1:n.4116+391_4116+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000642579.1:c.2173+391_2173+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000642611.1:n.4610_4611insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000642902.1:c.3901+391_3901+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000643260.1:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000494450.1:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000643562.1:c.*2241+391_*2241+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000496124.1:n.*2241+391_*2241+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000643925.1:c.2759+391_2759+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000644057.1:n.196+391_196+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000644484.1:c.*2911_*2912insAGTGGATGGCAGCAAAAGGAAT | ENSP00000493558.1:n.*2911_*2912insAGTGGATGGCAGCAAAAGGAAT | |
| ENST00000644675.1:c.*2291+391_*2291+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000494567.1:n.*2291+391_*2291+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000644757.1:c.*2941_*2942insAGTGGATGGCAGCAAAAGGAAT | ENSP00000495085.1:n.*2941_*2942insAGTGGATGGCAGCAAAAGGAAT | |
| ENST00000644772.1:c.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000494321.1:n.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000645004.1:n.1812+353_1812+354insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000645076.1:c.3318+391_3318+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000645417.1:c.1307+391_1307+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000645744.1:c.*3290_*3291insAGTGGATGGCAGCAAAAGGAAT | ENSP00000494564.1:n.*3290_*3291insAGTGGATGGCAGCAAAAGGAAT | |
| ENST00000645760.1:c.4540+391_4540+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000645884.1:c.*1402+391_*1402+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000495516.1:n.*1402+391_*1402+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000646003.1:c.*2221+391_*2221+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000495259.1:n.*2221+391_*2221+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000646207.1:c.*2956+391_*2956+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000495025.1:n.*2956+391_*2956+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000646276.1:c.*2929_*2930insAGTGGATGGCAGCAAAAGGAAT | ENSP00000496070.1:n.*2929_*2930insAGTGGATGGCAGCAAAAGGAAT | |
| ENST00000646592.1:c.3425+391_3425+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000646902.1:c.4086+391_4086+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000494101.1:n.4086+391_4086+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000646993.1:c.*2661+391_*2661+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000493720.1:n.*2661+391_*2661+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000647013.1:c.4125+391_4125+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000496741.1:n.4125+391_4125+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000647015.1:c.3870+391_3870+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000495389.1:n.3870+391_3870+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000647086.1:c.*3705+391_*3705+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000493677.1:n.*3705+391_*3705+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000647158.1:c.*2406+391_*2406+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000495744.1:n.*2406+391_*2406+392insAGTGGATGGCAGCAAAAGG... | |
| ENST00000302539.8:c.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000303960.4:n.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000389817.7:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | ENSP00000374467.3:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAA... | |
| ENST00000528374.1:c.601+391_601+392insAGTGGATGGCAGCAAAAGGAAT | ||
| ENST00000532220.1:n.593+391_593+392insAGTGGATGGCAGCAAAAGGAAT | ||
| NM_000352.4:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | NP_000343.2:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | |
| NM_001287174.1:c.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | NP_001274103.1:n.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_011520331.1:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | XP_011518633.1:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_011520332.1:c.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | XP_011518634.1:n.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_011520333.1:c.2619+391_2619+392insAGTGGATGGCAGCAAAAGGAAT | XP_011518635.1:n.2619+391_2619+392insAGTGGATGGCAGCAAAAGGAAT | |
| XR_930890.1:n.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | ||
| NM_001351295.1:c.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | NP_001338224.1:n.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | |
| NM_001351296.1:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | NP_001338225.1:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | |
| NM_001351297.1:c.4116+391_4116+392insAGTGGATGGCAGCAAAAGGAAT | NP_001338226.1:n.4116+391_4116+392insAGTGGATGGCAGCAAAAGGAAT | |
| NR_147094.1:n.4414+391_4414+392insAGTGGATGGCAGCAAAAGGAAT | ||
| XM_017018197.2:c.4188+391_4188+392insAGTGGATGGCAGCAAAAGGAAT | XP_016873686.1:n.4188+391_4188+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_017018199.1:c.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | XP_016873688.1:n.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_017018201.2:c.4188+391_4188+392insAGTGGATGGCAGCAAAAGGAAT | XP_016873690.1:n.4188+391_4188+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_017018202.1:c.2685+391_2685+392insAGTGGATGGCAGCAAAAGGAAT | XP_016873691.1:n.2685+391_2685+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_017018204.1:c.2076+391_2076+392insAGTGGATGGCAGCAAAAGGAAT | XP_016873693.1:n.2076+391_2076+392insAGTGGATGGCAGCAAAAGGAAT | |
| XM_024448668.1:c.2487+391_2487+392insAGTGGATGGCAGCAAAAGGAAT | XP_024304436.1:n.2487+391_2487+392insAGTGGATGGCAGCAAAAGGAAT | |
| XR_001747945.2:n.4260+391_4260+392insAGTGGATGGCAGCAAAAGGAAT | ||
| XR_001747946.2:n.4191+391_4191+392insAGTGGATGGCAGCAAAAGGAAT | ||
| XR_002957189.1:n.5247_5248insAGTGGATGGCAGCAAAAGGAAT | ||
| NM_000352.6:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT MANE Select | NP_000343.2:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | |
| NM_001287174.2:c.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | NP_001274103.1:n.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | |
| NM_001351295.2:c.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | NP_001338224.1:n.4185+391_4185+392insAGTGGATGGCAGCAAAAGGAAT | |
| NM_001351296.2:c.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | NP_001338225.1:n.4119+391_4119+392insAGTGGATGGCAGCAAAAGGAAT | |
| NM_001351297.2:c.4116+391_4116+392insAGTGGATGGCAGCAAAAGGAAT | NP_001338226.1:n.4116+391_4116+392insAGTGGATGGCAGCAAAAGGAAT | |
| NR_147094.2:n.4414+391_4414+392insAGTGGATGGCAGCAAAAGGAAT | ||
| NM_001287174.3:c.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT | NP_001274103.1:n.4122+391_4122+392insAGTGGATGGCAGCAAAAGGAAT |