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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396522_17396523insTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGG , CM000673.2:g.17396522_17396523insTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGG | GRCh38 |
| NC_000011.9:g.17418069_17418070insTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGG , CM000673.1:g.17418069_17418070insTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGG | GRCh37 |
| NC_000011.8:g.17374645_17374646insTCCTTTTGCTGCCATCCACTGCCTGCTCAGAGCAGCCCTCCCTGG | NCBI36 |
| NG_008867.1:g.85380_85381insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3720+393_3720+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000528374.2:c.710+393_710+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000529967.6:n.2458+393_2458+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000532220.2:n.2760_2761insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000642611.2:n.4727_4728insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000644057.2:n.562+393_562+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000645004.2:n.1618+393_1618+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682051.1:n.4281+393_4281+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682110.1:n.4334+393_4334+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682140.1:c.3986-593_3986-592insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507829.1:n.3986-593_3986-592insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000682185.1:n.5424+393_5424+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682204.1:c.*2257+393_*2257+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507094.1:n.*2257+393_*2257+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000682215.1:n.4701+393_4701+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682288.1:c.*2550+393_*2550+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507506.1:n.*2550+393_*2550+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000682442.1:n.4554+393_4554+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682528.1:n.4411+393_4411+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682673.1:n.4278+393_4278+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682805.1:n.4739+355_4739+356insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000682965.1:c.*541+393_*541+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000508229.1:n.*541+393_*541+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000683093.1:n.4826_4827insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000683136.1:c.4002+393_4002+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507768.1:n.4002+393_4002+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000683153.1:n.4376+393_4376+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000683365.1:n.4436+393_4436+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000683377.1:n.4334+393_4334+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000683456.1:c.*1256+393_*1256+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000508318.1:n.*1256+393_*1256+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000683522.1:n.4334+393_4334+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000683562.1:c.*2288+393_*2288+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000508265.1:n.*2288+393_*2288+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000683693.1:n.5174_5175insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000683725.1:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507496.1:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000684010.1:n.4329+393_4329+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684157.1:n.4727_4728insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684253.1:n.4237+393_4237+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684288.1:c.*2291+393_*2291+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507143.1:n.*2291+393_*2291+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000684313.1:n.3766+393_3766+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684332.1:n.4407+393_4407+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684371.1:n.4440+393_4440+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684404.1:n.4770_4771insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684442.1:n.4558+393_4558+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000684555.1:c.*2331+393_*2331+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507705.1:n.*2331+393_*2331+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000684571.1:c.3960+393_3960+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000506935.1:n.3960+393_3960+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000684593.1:c.*3824+393_*3824+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000507005.1:n.*3824+393_*3824+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000684711.1:c.*2515+393_*2515+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000506841.1:n.*2515+393_*2515+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000302539.9:c.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000303960.4:n.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000389817.8:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA MANE Select | ENSP00000374467.4:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000642271.1:c.4116+393_4116+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000493749.1:n.4116+393_4116+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000642579.1:c.2173+393_2173+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000642611.1:n.4612_4613insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000642902.1:c.3901+393_3901+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000643260.1:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000494450.1:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000643562.1:c.*2241+393_*2241+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000496124.1:n.*2241+393_*2241+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000643925.1:c.2759+393_2759+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000644057.1:n.196+393_196+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000644484.1:c.*2913_*2914insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000493558.1:n.*2913_*2914insCCAGGGAGGGCTGCTCTGAGCAGGCAG... | |
| ENST00000644675.1:c.*2291+393_*2291+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000494567.1:n.*2291+393_*2291+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000644757.1:c.*2943_*2944insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000495085.1:n.*2943_*2944insCCAGGGAGGGCTGCTCTGAGCAGGCAG... | |
| ENST00000644772.1:c.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000494321.1:n.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000645004.1:n.1812+355_1812+356insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000645076.1:c.3318+393_3318+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000645417.1:c.1307+393_1307+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000645744.1:c.*3292_*3293insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000494564.1:n.*3292_*3293insCCAGGGAGGGCTGCTCTGAGCAGGCAG... | |
| ENST00000645760.1:c.4540+393_4540+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000645884.1:c.*1402+393_*1402+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000495516.1:n.*1402+393_*1402+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000646003.1:c.*2221+393_*2221+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000495259.1:n.*2221+393_*2221+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000646207.1:c.*2956+393_*2956+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000495025.1:n.*2956+393_*2956+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000646276.1:c.*2931_*2932insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000496070.1:n.*2931_*2932insCCAGGGAGGGCTGCTCTGAGCAGGCAG... | |
| ENST00000646592.1:c.3425+393_3425+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000646902.1:c.4086+393_4086+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000494101.1:n.4086+393_4086+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000646993.1:c.*2661+393_*2661+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000493720.1:n.*2661+393_*2661+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000647013.1:c.4125+393_4125+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000496741.1:n.4125+393_4125+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000647015.1:c.3870+393_3870+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000495389.1:n.3870+393_3870+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000647086.1:c.*3705+393_*3705+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000493677.1:n.*3705+393_*3705+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000647158.1:c.*2406+393_*2406+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000495744.1:n.*2406+393_*2406+394insCCAGGGAGGGCTGCTCTGA... | |
| ENST00000302539.8:c.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000303960.4:n.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000389817.7:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ENSP00000374467.3:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGC... | |
| ENST00000528374.1:c.601+393_601+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| ENST00000532220.1:n.593+393_593+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| NM_000352.4:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_000343.2:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAG... | |
| NM_001287174.1:c.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001274103.1:n.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_011520331.1:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_011518633.1:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_011520332.1:c.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_011518634.1:n.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_011520333.1:c.2619+393_2619+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_011518635.1:n.2619+393_2619+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XR_930890.1:n.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| NM_001351295.1:c.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001338224.1:n.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| NM_001351296.1:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001338225.1:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| NM_001351297.1:c.4116+393_4116+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001338226.1:n.4116+393_4116+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| NR_147094.1:n.4414+393_4414+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| XM_017018197.2:c.4188+393_4188+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_016873686.1:n.4188+393_4188+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_017018199.1:c.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_016873688.1:n.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_017018201.2:c.4188+393_4188+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_016873690.1:n.4188+393_4188+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_017018202.1:c.2685+393_2685+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_016873691.1:n.2685+393_2685+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_017018204.1:c.2076+393_2076+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_016873693.1:n.2076+393_2076+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XM_024448668.1:c.2487+393_2487+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | XP_024304436.1:n.2487+393_2487+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| XR_001747945.2:n.4260+393_4260+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| XR_001747946.2:n.4191+393_4191+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| XR_002957189.1:n.5249_5250insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| NM_000352.6:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA MANE Select | NP_000343.2:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAG... | |
| NM_001287174.2:c.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001274103.1:n.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| NM_001351295.2:c.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001338224.1:n.4185+393_4185+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| NM_001351296.2:c.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001338225.1:n.4119+393_4119+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| NM_001351297.2:c.4116+393_4116+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001338226.1:n.4116+393_4116+394insCCAGGGAGGGCTGCTCTGAGCAGG... | |
| NR_147094.2:n.4414+393_4414+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | ||
| NM_001287174.3:c.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGGCAGTGGATGGCAGCAAAAGGA | NP_001274103.1:n.4122+393_4122+394insCCAGGGAGGGCTGCTCTGAGCAGG... |