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.17406872_17406899delinsGGGCCGCCAGTCACACCTGGCTGAGGGA , CM000673.2:g.17406872_17406899delinsGGGCCGCCAGTCACACCTGGCTGAGGGA | GRCh38 |
| NC_000011.9:g.17428419_17428446delinsGGGCCGCCAGTCACACCTGGCTGAGGGA , CM000673.1:g.17428419_17428446delinsGGGCCGCCAGTCACACCTGGCTGAGGGA | GRCh37 |
| NC_000011.8:g.17384995_17385022delinsGGGCCGCCAGTCACACCTGGCTGAGGGA | NCBI36 |
| NG_008867.1:g.75004_75031delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2720_2731+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000529967.6:n.1490_1501+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000532220.2:n.883_894+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000642611.2:n.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000645004.2:n.650_661+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682051.1:n.3167_3178+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682110.1:n.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682140.1:c.3148_3159+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682185.1:n.4456_4467+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682204.1:c.*1289_*1300+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682215.1:n.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682288.1:c.*1582_*1593+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682442.1:n.3341_3368delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682528.1:n.3297_3308+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682673.1:n.3164_3175+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682805.1:n.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000682965.1:c.3148_3159+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683093.1:n.3319_3330+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683136.1:c.3148_3159+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683153.1:n.3376_3387+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683365.1:n.3322_3333+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683377.1:n.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683456.1:c.*288_*299+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683522.1:n.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683562.1:c.*1320_*1331+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683693.1:n.3297_3308+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000683725.1:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684010.1:n.3215_3226+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684157.1:n.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684253.1:n.3123_3134+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684288.1:c.*1323_*1334+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684313.1:n.2652_2663+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684332.1:n.3293_3304+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684371.1:n.3326_3337+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684404.1:n.3263_3274+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684442.1:n.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684555.1:c.*1363_*1374+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684571.1:c.2992_3003+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684593.1:c.*2856_*2867+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000684711.1:c.*1547_*1558+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000302539.9:c.3154_3165+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000389817.8:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000642271.1:c.3148_3159+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000642579.1:c.1235_1246+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000642611.1:n.3105_3116+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000642902.1:c.2933_2944+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000643260.1:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000643562.1:c.*1127_*1138+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000643925.1:c.1275_1286+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000644447.1:c.1507_1518+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000644484.1:c.*1406_*1417+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000644542.1:c.*2856_*2883delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ENSP00000495532.1:n.*2856_*2883delinsTCCCTCAGCCAGGTGTGACTGGCG... | |
| ENST00000644675.1:c.*1323_*1334+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000644757.1:c.*1436_*1447+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000644772.1:c.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000645004.1:n.290_301+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000645076.1:c.2350_2361+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000645417.1:c.317_328+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000645744.1:c.*1415_*1426+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000645760.1:c.3426_3437+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000645884.1:c.*288_*299+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000646003.1:c.*1107_*1118+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000646207.1:c.*1618_*1629+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000646276.1:c.*1424_*1435+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000646592.1:c.2457_2468+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000646902.1:c.3148_3159+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000646993.1:c.*1547_*1558+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000647013.1:c.3157_3168+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000647015.1:c.2902_2913+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000647086.1:c.*2881_*2892+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000647158.1:c.*1292_*1303+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000302539.8:c.3154_3165+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000389817.7:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000524561.1:n.283_294+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000526921.5:n.835_846+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| ENST00000527905.5:c.*27_*38+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_000352.4:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001287174.1:c.3154_3165+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_011520331.1:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_011520332.1:c.3154_3165+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_011520333.1:c.1651_1662+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XR_930890.1:n.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XR_930891.1:n.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XR_930892.1:n.3117_3128+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XR_930893.1:n.3114_3125+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001351295.1:c.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001351296.1:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001351297.1:c.3148_3159+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NR_147094.1:n.3300_3311+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_017018197.2:c.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_017018199.1:c.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_017018201.2:c.3220_3231+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_017018202.1:c.1717_1728+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_017018204.1:c.1108_1119+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XM_024448668.1:c.1519_1530+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XR_001747945.2:n.3292_3303+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XR_001747946.2:n.3223_3234+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| XR_002957189.1:n.3372_3383+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_000352.6:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001287174.2:c.3154_3165+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001351295.2:c.3217_3228+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001351296.2:c.3151_3162+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001351297.2:c.3148_3159+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NR_147094.2:n.3300_3311+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC | ||
| NM_001287174.3:c.3154_3165+16delinsTCCCTCAGCCAGGTGTGACTGGCGGCCC |