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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17404719_17404720del , CM000673.2:g.17404719_17404720del | GRCh38 |
| NC_000011.9:g.17426266_17426267del , CM000673.1:g.17426266_17426267del | GRCh37 |
| NC_000011.8:g.17382842_17382843del | NCBI36 |
| NG_008867.1:g.77186_77187del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2969-48_2969-47del | ||
| ENST00000529967.6:n.1739-48_1739-47del | ||
| ENST00000532220.2:n.1132-48_1132-47del | ||
| ENST00000642611.2:n.3469-48_3469-47del | ||
| ENST00000645004.2:n.899-48_899-47del | ||
| ENST00000682051.1:n.3416-48_3416-47del | ||
| ENST00000682110.1:n.3469-48_3469-47del | ||
| ENST00000682140.1:c.3397-48_3397-47del | ENSP00000507829.1:n.3397-48_3397-47del | |
| ENST00000682185.1:n.4705-48_4705-47del | ||
| ENST00000682204.1:c.*1538-48_*1538-47del | ENSP00000507094.1:n.*1538-48_*1538-47del | |
| ENST00000682215.1:n.3466-48_3466-47del | ||
| ENST00000682288.1:c.*1831-48_*1831-47del | ENSP00000507506.1:n.*1831-48_*1831-47del | |
| ENST00000682442.1:n.3689-48_3689-47del | ||
| ENST00000682528.1:n.3546-48_3546-47del | ||
| ENST00000682673.1:n.3413-48_3413-47del | ||
| ENST00000682805.1:n.3466-48_3466-47del | ||
| ENST00000682965.1:c.3396+777_3396+778del | ENSP00000508229.1:n.3396+777_3396+778del | |
| ENST00000683093.1:n.3568-48_3568-47del | ||
| ENST00000683136.1:c.3397-48_3397-47del | ENSP00000507768.1:n.3397-48_3397-47del | |
| ENST00000683153.1:n.3625-48_3625-47del | ||
| ENST00000683365.1:n.3571-48_3571-47del | ||
| ENST00000683377.1:n.3469-48_3469-47del | ||
| ENST00000683456.1:c.*537-48_*537-47del | ENSP00000508318.1:n.*537-48_*537-47del | |
| ENST00000683522.1:n.3469-48_3469-47del | ||
| ENST00000683562.1:c.*1569-48_*1569-47del | ENSP00000508265.1:n.*1569-48_*1569-47del | |
| ENST00000683693.1:n.3546-48_3546-47del | ||
| ENST00000683725.1:c.3400-48_3400-47del | ENSP00000507496.1:n.3400-48_3400-47del | |
| ENST00000684010.1:n.3464-48_3464-47del | ||
| ENST00000684157.1:n.3469-48_3469-47del | ||
| ENST00000684253.1:n.3372-48_3372-47del | ||
| ENST00000684288.1:c.*1572-48_*1572-47del | ENSP00000507143.1:n.*1572-48_*1572-47del | |
| ENST00000684313.1:n.2901-48_2901-47del | ||
| ENST00000684332.1:n.3542-48_3542-47del | ||
| ENST00000684371.1:n.3575-48_3575-47del | ||
| ENST00000684404.1:n.3512-48_3512-47del | ||
| ENST00000684442.1:n.3469-48_3469-47del | ||
| ENST00000684555.1:c.*1612-48_*1612-47del | ENSP00000507705.1:n.*1612-48_*1612-47del | |
| ENST00000684571.1:c.3241-48_3241-47del | ENSP00000506935.1:n.3241-48_3241-47del | |
| ENST00000684593.1:c.*3105-48_*3105-47del | ENSP00000507005.1:n.*3105-48_*3105-47del | |
| ENST00000684711.1:c.*1796-48_*1796-47del | ENSP00000506841.1:n.*1796-48_*1796-47del | |
| ENST00000302539.9:c.3403-48_3403-47del | ENSP00000303960.4:n.3403-48_3403-47del | |
| ENST00000389817.8:c.3400-48_3400-47del MANE Select | ENSP00000374467.4:n.3400-48_3400-47del | |
| ENST00000642271.1:c.3397-48_3397-47del | ENSP00000493749.1:n.3397-48_3397-47del | |
| ENST00000642579.1:c.1484-48_1484-47del | ||
| ENST00000642611.1:n.3354-48_3354-47del | ||
| ENST00000642902.1:c.3182-48_3182-47del | ||
| ENST00000643260.1:c.3400-48_3400-47del | ENSP00000494450.1:n.3400-48_3400-47del | |
| ENST00000643562.1:c.*1376-48_*1376-47del | ENSP00000496124.1:n.*1376-48_*1376-47del | |
| ENST00000643925.1:c.1524-48_1524-47del | ||
| ENST00000644447.1:c.1756-48_1756-47del | ENSP00000496282.1:n.1756-48_1756-47del | |
| ENST00000644484.1:c.*1655-48_*1655-47del | ENSP00000493558.1:n.*1655-48_*1655-47del | |
| ENST00000644675.1:c.*1572-48_*1572-47del | ENSP00000494567.1:n.*1572-48_*1572-47del | |
| ENST00000644757.1:c.*1685-48_*1685-47del | ENSP00000495085.1:n.*1685-48_*1685-47del | |
| ENST00000644772.1:c.3466-48_3466-47del | ENSP00000494321.1:n.3466-48_3466-47del | |
| ENST00000645004.1:n.539-48_539-47del | ||
| ENST00000645076.1:c.2599-48_2599-47del | ||
| ENST00000645417.1:c.566-48_566-47del | ||
| ENST00000645744.1:c.*1664-48_*1664-47del | ENSP00000494564.1:n.*1664-48_*1664-47del | |
| ENST00000645760.1:c.3675-48_3675-47del | ||
| ENST00000645884.1:c.*537-48_*537-47del | ENSP00000495516.1:n.*537-48_*537-47del | |
| ENST00000646003.1:c.*1356-48_*1356-47del | ENSP00000495259.1:n.*1356-48_*1356-47del | |
| ENST00000646207.1:c.*1867-48_*1867-47del | ENSP00000495025.1:n.*1867-48_*1867-47del | |
| ENST00000646276.1:c.*1673-48_*1673-47del | ENSP00000496070.1:n.*1673-48_*1673-47del | |
| ENST00000646592.1:c.2706-48_2706-47del | ||
| ENST00000646902.1:c.3397-48_3397-47del | ENSP00000494101.1:n.3397-48_3397-47del | |
| ENST00000646993.1:c.*1796-48_*1796-47del | ENSP00000493720.1:n.*1796-48_*1796-47del | |
| ENST00000647013.1:c.3406-48_3406-47del | ENSP00000496741.1:n.3406-48_3406-47del | |
| ENST00000647015.1:c.3151-48_3151-47del | ENSP00000495389.1:n.3151-48_3151-47del | |
| ENST00000647086.1:c.*3130-48_*3130-47del | ENSP00000493677.1:n.*3130-48_*3130-47del | |
| ENST00000647158.1:c.*1541-48_*1541-47del | ENSP00000495744.1:n.*1541-48_*1541-47del | |
| ENST00000302539.8:c.3403-48_3403-47del | ENSP00000303960.4:n.3403-48_3403-47del | |
| ENST00000389817.7:c.3400-48_3400-47del | ENSP00000374467.3:n.3400-48_3400-47del | |
| ENST00000524561.1:n.532-48_532-47del | ||
| ENST00000527905.5:c.*276-48_*276-47del | ENSP00000431653.1:n.*276-48_*276-47del | |
| NM_000352.4:c.3400-48_3400-47del | NP_000343.2:n.3400-48_3400-47del | |
| NM_001287174.1:c.3403-48_3403-47del | NP_001274103.1:n.3403-48_3403-47del | |
| XM_011520331.1:c.3400-48_3400-47del | XP_011518633.1:n.3400-48_3400-47del | |
| XM_011520332.1:c.3403-48_3403-47del | XP_011518634.1:n.3403-48_3403-47del | |
| XM_011520333.1:c.1900-48_1900-47del | XP_011518635.1:n.1900-48_1900-47del | |
| XR_930890.1:n.3466-48_3466-47del | ||
| XR_930891.1:n.3467-48_3467-47del | ||
| XR_930892.1:n.3366-48_3366-47del | ||
| XR_930893.1:n.3363-48_3363-47del | ||
| NM_001351295.1:c.3466-48_3466-47del | NP_001338224.1:n.3466-48_3466-47del | |
| NM_001351296.1:c.3400-48_3400-47del | NP_001338225.1:n.3400-48_3400-47del | |
| NM_001351297.1:c.3397-48_3397-47del | NP_001338226.1:n.3397-48_3397-47del | |
| NR_147094.1:n.3549-48_3549-47del | ||
| XM_017018197.2:c.3469-48_3469-47del | XP_016873686.1:n.3469-48_3469-47del | |
| XM_017018199.1:c.3466-48_3466-47del | XP_016873688.1:n.3466-48_3466-47del | |
| XM_017018201.2:c.3469-48_3469-47del | XP_016873690.1:n.3469-48_3469-47del | |
| XM_017018202.1:c.1966-48_1966-47del | XP_016873691.1:n.1966-48_1966-47del | |
| XM_017018204.1:c.1357-48_1357-47del | XP_016873693.1:n.1357-48_1357-47del | |
| XM_024448668.1:c.1768-48_1768-47del | XP_024304436.1:n.1768-48_1768-47del | |
| XR_001747945.2:n.3541-48_3541-47del | ||
| XR_001747946.2:n.3472-48_3472-47del | ||
| XR_002957189.1:n.3621-48_3621-47del | ||
| NM_000352.6:c.3400-48_3400-47del MANE Select | NP_000343.2:n.3400-48_3400-47del | |
| NM_001287174.2:c.3403-48_3403-47del | NP_001274103.1:n.3403-48_3403-47del | |
| NM_001351295.2:c.3466-48_3466-47del | NP_001338224.1:n.3466-48_3466-47del | |
| NM_001351296.2:c.3400-48_3400-47del | NP_001338225.1:n.3400-48_3400-47del | |
| NM_001351297.2:c.3397-48_3397-47del | NP_001338226.1:n.3397-48_3397-47del | |
| NR_147094.2:n.3549-48_3549-47del | ||
| NM_001287174.3:c.3403-48_3403-47del | NP_001274103.1:n.3403-48_3403-47del |