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.
Linked Data
gnomAD v4:
11-17396402-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17396408_17396409del , CM000673.2:g.17396408_17396409del | GRCh38 |
| NC_000011.9:g.17417955_17417956del , CM000673.1:g.17417955_17417956del | GRCh37 |
| NC_000011.8:g.17374531_17374532del | NCBI36 |
| NG_008867.1:g.85499_85500del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3721-474_3721-473del | ||
| ENST00000528374.2:c.711-474_711-473del | ||
| ENST00000529967.6:n.2459-474_2459-473del | ||
| ENST00000532220.2:n.2879_2880del | ||
| ENST00000642611.2:n.4846_4847del | ||
| ENST00000644057.2:n.563-474_563-473del | ||
| ENST00000645004.2:n.1619-474_1619-473del | ||
| ENST00000682051.1:n.4282-474_4282-473del | ||
| ENST00000682110.1:n.4335-474_4335-473del | ||
| ENST00000682140.1:c.3986-474_3986-473del | ENSP00000507829.1:n.3986-474_3986-473del | |
| ENST00000682185.1:n.5425-474_5425-473del | ||
| ENST00000682204.1:c.*2258-474_*2258-473del | ENSP00000507094.1:n.*2258-474_*2258-473del | |
| ENST00000682215.1:n.4702-474_4702-473del | ||
| ENST00000682288.1:c.*2551-474_*2551-473del | ENSP00000507506.1:n.*2551-474_*2551-473del | |
| ENST00000682442.1:n.4555-474_4555-473del | ||
| ENST00000682528.1:n.4412-474_4412-473del | ||
| ENST00000682673.1:n.4279-474_4279-473del | ||
| ENST00000682805.1:n.4740-474_4740-473del | ||
| ENST00000682965.1:c.*542-474_*542-473del | ENSP00000508229.1:n.*542-474_*542-473del | |
| ENST00000683093.1:n.4945_4946del | ||
| ENST00000683136.1:c.4003-474_4003-473del | ENSP00000507768.1:n.4003-474_4003-473del | |
| ENST00000683153.1:n.4377-474_4377-473del | ||
| ENST00000683365.1:n.4437-474_4437-473del | ||
| ENST00000683377.1:n.4335-474_4335-473del | ||
| ENST00000683456.1:c.*1257-474_*1257-473del | ENSP00000508318.1:n.*1257-474_*1257-473del | |
| ENST00000683522.1:n.4335-474_4335-473del | ||
| ENST00000683562.1:c.*2289-474_*2289-473del | ENSP00000508265.1:n.*2289-474_*2289-473del | |
| ENST00000683693.1:n.5293_5294del | ||
| ENST00000683725.1:c.4120-474_4120-473del | ENSP00000507496.1:n.4120-474_4120-473del | |
| ENST00000684010.1:n.4330-474_4330-473del | ||
| ENST00000684157.1:n.4846_4847del | ||
| ENST00000684253.1:n.4238-474_4238-473del | ||
| ENST00000684288.1:c.*2292-474_*2292-473del | ENSP00000507143.1:n.*2292-474_*2292-473del | |
| ENST00000684313.1:n.3767-474_3767-473del | ||
| ENST00000684332.1:n.4408-474_4408-473del | ||
| ENST00000684371.1:n.4441-474_4441-473del | ||
| ENST00000684404.1:n.4889_4890del | ||
| ENST00000684442.1:n.4559-474_4559-473del | ||
| ENST00000684555.1:c.*2332-474_*2332-473del | ENSP00000507705.1:n.*2332-474_*2332-473del | |
| ENST00000684571.1:c.3961-474_3961-473del | ENSP00000506935.1:n.3961-474_3961-473del | |
| ENST00000684593.1:c.*3825-474_*3825-473del | ENSP00000507005.1:n.*3825-474_*3825-473del | |
| ENST00000684711.1:c.*2516-474_*2516-473del | ENSP00000506841.1:n.*2516-474_*2516-473del | |
| ENST00000302539.9:c.4123-474_4123-473del | ENSP00000303960.4:n.4123-474_4123-473del | |
| ENST00000389817.8:c.4120-474_4120-473del MANE Select | ENSP00000374467.4:n.4120-474_4120-473del | |
| ENST00000642271.1:c.4117-474_4117-473del | ENSP00000493749.1:n.4117-474_4117-473del | |
| ENST00000642579.1:c.2174-474_2174-473del | ||
| ENST00000642611.1:n.4731_4732del | ||
| ENST00000642902.1:c.3902-474_3902-473del | ||
| ENST00000643260.1:c.4120-474_4120-473del | ENSP00000494450.1:n.4120-474_4120-473del | |
| ENST00000643562.1:c.*2242-474_*2242-473del | ENSP00000496124.1:n.*2242-474_*2242-473del | |
| ENST00000643925.1:c.2760-474_2760-473del | ||
| ENST00000644057.1:n.197-474_197-473del | ||
| ENST00000644484.1:c.*3032_*3033del | ENSP00000493558.1:n.*3032_*3033del | |
| ENST00000644675.1:c.*2292-474_*2292-473del | ENSP00000494567.1:n.*2292-474_*2292-473del | |
| ENST00000644757.1:c.*3062_*3063del | ENSP00000495085.1:n.*3062_*3063del | |
| ENST00000644772.1:c.4186-474_4186-473del | ENSP00000494321.1:n.4186-474_4186-473del | |
| ENST00000645004.1:n.1813-474_1813-473del | ||
| ENST00000645076.1:c.3319-474_3319-473del | ||
| ENST00000645417.1:c.1308-474_1308-473del | ||
| ENST00000645744.1:c.*3411_*3412del | ENSP00000494564.1:n.*3411_*3412del | |
| ENST00000645760.1:c.4541-474_4541-473del | ||
| ENST00000645884.1:c.*1403-474_*1403-473del | ENSP00000495516.1:n.*1403-474_*1403-473del | |
| ENST00000646003.1:c.*2222-474_*2222-473del | ENSP00000495259.1:n.*2222-474_*2222-473del | |
| ENST00000646207.1:c.*2957-474_*2957-473del | ENSP00000495025.1:n.*2957-474_*2957-473del | |
| ENST00000646276.1:c.*3050_*3051del | ENSP00000496070.1:n.*3050_*3051del | |
| ENST00000646592.1:c.3426-474_3426-473del | ||
| ENST00000646902.1:c.4087-474_4087-473del | ENSP00000494101.1:n.4087-474_4087-473del | |
| ENST00000646993.1:c.*2662-474_*2662-473del | ENSP00000493720.1:n.*2662-474_*2662-473del | |
| ENST00000647013.1:c.4126-474_4126-473del | ENSP00000496741.1:n.4126-474_4126-473del | |
| ENST00000647015.1:c.3871-474_3871-473del | ENSP00000495389.1:n.3871-474_3871-473del | |
| ENST00000647086.1:c.*3706-474_*3706-473del | ENSP00000493677.1:n.*3706-474_*3706-473del | |
| ENST00000647158.1:c.*2407-474_*2407-473del | ENSP00000495744.1:n.*2407-474_*2407-473del | |
| ENST00000302539.8:c.4123-474_4123-473del | ENSP00000303960.4:n.4123-474_4123-473del | |
| ENST00000389817.7:c.4120-474_4120-473del | ENSP00000374467.3:n.4120-474_4120-473del | |
| ENST00000528374.1:c.602-474_602-473del | ||
| ENST00000532220.1:n.594-474_594-473del | ||
| NM_000352.4:c.4120-474_4120-473del | NP_000343.2:n.4120-474_4120-473del | |
| NM_001287174.1:c.4123-474_4123-473del | NP_001274103.1:n.4123-474_4123-473del | |
| XM_011520331.1:c.4120-474_4120-473del | XP_011518633.1:n.4120-474_4120-473del | |
| XM_011520332.1:c.4123-474_4123-473del | XP_011518634.1:n.4123-474_4123-473del | |
| XM_011520333.1:c.2620-474_2620-473del | XP_011518635.1:n.2620-474_2620-473del | |
| XR_930890.1:n.4186-474_4186-473del | ||
| NM_001351295.1:c.4186-474_4186-473del | NP_001338224.1:n.4186-474_4186-473del | |
| NM_001351296.1:c.4120-474_4120-473del | NP_001338225.1:n.4120-474_4120-473del | |
| NM_001351297.1:c.4117-474_4117-473del | NP_001338226.1:n.4117-474_4117-473del | |
| NR_147094.1:n.4415-474_4415-473del | ||
| XM_017018197.2:c.4189-474_4189-473del | XP_016873686.1:n.4189-474_4189-473del | |
| XM_017018199.1:c.4186-474_4186-473del | XP_016873688.1:n.4186-474_4186-473del | |
| XM_017018201.2:c.4189-474_4189-473del | XP_016873690.1:n.4189-474_4189-473del | |
| XM_017018202.1:c.2686-474_2686-473del | XP_016873691.1:n.2686-474_2686-473del | |
| XM_017018204.1:c.2077-474_2077-473del | XP_016873693.1:n.2077-474_2077-473del | |
| XM_024448668.1:c.2488-474_2488-473del | XP_024304436.1:n.2488-474_2488-473del | |
| XR_001747945.2:n.4261-474_4261-473del | ||
| XR_001747946.2:n.4192-474_4192-473del | ||
| XR_002957189.1:n.5368_5369del | ||
| NM_000352.6:c.4120-474_4120-473del MANE Select | NP_000343.2:n.4120-474_4120-473del | |
| NM_001287174.2:c.4123-474_4123-473del | NP_001274103.1:n.4123-474_4123-473del | |
| NM_001351295.2:c.4186-474_4186-473del | NP_001338224.1:n.4186-474_4186-473del | |
| NM_001351296.2:c.4120-474_4120-473del | NP_001338225.1:n.4120-474_4120-473del | |
| NM_001351297.2:c.4117-474_4117-473del | NP_001338226.1:n.4117-474_4117-473del | |
| NR_147094.2:n.4415-474_4415-473del | ||
| NM_001287174.3:c.4123-474_4123-473del | NP_001274103.1:n.4123-474_4123-473del |