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_000001.11:g.45330517_45330524delinsTGGGCTGTTGG , CM000663.2:g.45330517_45330524delinsTGGGCTGTTGG | GRCh38 |
| NC_000001.10:g.45796189_45796196delinsTGGGCTGTTGG , CM000663.1:g.45796189_45796196delinsTGGGCTGTTGG | GRCh37 |
| NC_000001.9:g.45568776_45568783delinsTGGGCTGTTGG | NCBI36 |
| NG_008189.1:g.14947_14954delinsCCAACAGCCCA , LRG_220:g.14947_14954delinsCCAACAGCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.1042_1049delinsCCAACAGCCCA | ENSP00000410263.2:p.Thr348_Met350delinsProThrAlaGln | |
| ENST00000435155.2:c.1459_1466delinsCCAACAGCCCA | ENSP00000403655.2:p.Thr487_Met489delinsProThrAlaGln | |
| ENST00000467459.6:c.*288_*295delinsCCAACAGCCCA | ENSP00000435889.2:n.*288_*295delinsCCAACAGCCCA | |
| ENST00000483127.2:c.1444_1451delinsCCAACAGCCCA | ENSP00000436469.2:p.Thr482_Met484delinsProThrAlaGln | |
| ENST00000485271.6:c.1426_1433delinsCCAACAGCCCA | ENSP00000431264.2:p.Thr476_Met478delinsProThrAlaGln | |
| ENST00000529892.6:c.1279_1286delinsCCAACAGCCCA | ENSP00000432528.2:p.Thr427_Met429delinsProThrAlaGln | |
| ENST00000533178.6:c.*755_*762delinsCCAACAGCCCA | ENSP00000436430.2:n.*755_*762delinsCCAACAGCCCA | |
| ENST00000672314.2:c.1426_1433delinsCCAACAGCCCA | ENSP00000500828.2:p.Thr476_Met478delinsProThrAlaGln | |
| ENST00000710952.2:c.1510_1517delinsCCAACAGCCCA MANE Plus Clinical | ENSP00000518552.2:p.Thr504_Met506delinsProThrAlaGln | |
| ENST00000672818.3:c.1501_1508delinsCCAACAGCCCA | ENSP00000500891.1:p.Thr501_Met503delinsProThrAlaGln | |
| ENST00000456914.7:c.1426_1433delinsCCAACAGCCCA MANE Select | ENSP00000407590.2:p.Thr476_Met478delinsProThrAlaGln | |
| ENST00000671898.1:c.2014_2021delinsCCAACAGCCCA | ENSP00000499896.1:p.Thr672_Met674delinsProThrAlaGln | |
| ENST00000672011.1:c.*755_*762delinsCCAACAGCCCA | ENSP00000500418.1:n.*755_*762delinsCCAACAGCCCA | |
| ENST00000672818.2:c.1501_1508delinsCCAACAGCCCA | ENSP00000500891.1:p.Thr501_Met503delinsProThrAlaGln | |
| ENST00000673134.1:c.*1123_*1130delinsCCAACAGCCCA | ENSP00000500526.1:n.*1123_*1130delinsCCAACAGCCCA | |
| ENST00000354383.10:c.1429_1436delinsCCAACAGCCCA | ENSP00000346354.6:p.Thr477_Met479delinsProThrAlaGln | |
| ENST00000355498.6:c.1426_1433delinsCCAACAGCCCA | ENSP00000347685.2:p.Thr476_Met478delinsProThrAlaGln | |
| ENST00000372098.7:c.1501_1508delinsCCAACAGCCCA | ENSP00000361170.3:p.Thr501_Met503delinsProThrAlaGln | |
| ENST00000372104.5:c.1426_1433delinsCCAACAGCCCA | ENSP00000361176.1:p.Thr476_Met478delinsProThrAlaGln | |
| ENST00000372110.7:c.1471_1478delinsCCAACAGCCCA | ENSP00000361182.3:p.Thr491_Met493delinsProThrAlaGln | |
| ENST00000372115.7:c.1468_1475delinsCCAACAGCCCA | ENSP00000361187.3:p.Thr490_Met492delinsProThrAlaGln | |
| ENST00000448481.5:c.1459_1466delinsCCAACAGCCCA | ENSP00000409718.1:p.Thr487_Met489delinsProThrAlaGln | |
| ENST00000450313.5:c.1510_1517delinsCCAACAGCCCA | ENSP00000408176.1:p.Thr504_Met506delinsProThrAlaGln | |
| ENST00000456914.6:c.1426_1433delinsCCAACAGCCCA | ENSP00000407590.2:p.Thr476_Met478delinsProThrAlaGln | |
| ENST00000467459.5:c.843_850delinsCCAACAGCCCA | ENSP00000435889.1:n.843_850delinsCCAACAGCCCA | |
| ENST00000475516.5:c.*1239_*1246delinsCCAACAGCCCA | ENSP00000433843.1:n.*1239_*1246delinsCCAACAGCCCA | |
| ENST00000481571.5:c.*1239_*1246delinsCCAACAGCCCA | ENSP00000436597.1:n.*1239_*1246delinsCCAACAGCCCA | |
| ENST00000482094.5:n.747_754delinsCCAACAGCCCA | ||
| ENST00000485271.5:c.123_130delinsCCAACAGCCCA | ||
| ENST00000488731.6:c.511_518delinsCCAACAGCCCA | ENSP00000432330.1:p.Thr171_Met173delinsProThrAlaGln | |
| ENST00000528013.6:c.1468_1475delinsCCAACAGCCCA | ENSP00000433130.2:p.Thr490_Met492delinsProThrAlaGln | |
| ENST00000529892.5:c.501_508delinsCCAACAGCCCA | ||
| ENST00000529984.5:c.511_518delinsCCAACAGCCCA | ENSP00000437093.1:p.Thr171_Met173delinsProThrAlaGln | |
| ENST00000531105.5:c.116-1087_116-1080delinsCCAACAGCCCA | ENSP00000431292.1:n.116-1087_116-1080delinsCCAACAGCCCA | |
| ENST00000533178.5:c.1055_1062delinsCCAACAGCCCA | ENSP00000436430.1:n.1055_1062delinsCCAACAGCCCA | |
| NM_001048171.1:c.1468_1475delinsCCAACAGCCCA | NP_001041636.1:p.Thr490_Met492delinsProThrAlaGln | |
| NM_001048172.1:c.1429_1436delinsCCAACAGCCCA | NP_001041637.1:p.Thr477_Met479delinsProThrAlaGln | |
| NM_001048173.1:c.1426_1433delinsCCAACAGCCCA | NP_001041638.1:p.Thr476_Met478delinsProThrAlaGln | |
| NM_001048174.1:c.1426_1433delinsCCAACAGCCCA | NP_001041639.1:p.Thr476_Met478delinsProThrAlaGln | |
| NM_001128425.1:c.1510_1517delinsCCAACAGCCCA , LRG_220t1:c.1510_1517delinsCCAACAGCCCA | NP_001121897.1:p.Thr504_Met506delinsProThrAlaGln | |
| NM_001293190.1:c.1471_1478delinsCCAACAGCCCA | NP_001280119.1:p.Thr491_Met493delinsProThrAlaGln | |
| NM_001293191.1:c.1459_1466delinsCCAACAGCCCA | NP_001280120.1:p.Thr487_Met489delinsProThrAlaGln | |
| NM_001293192.1:c.1150_1157delinsCCAACAGCCCA | NP_001280121.1:p.Thr384_Met386delinsProThrAlaGln | |
| NM_001293195.1:c.1426_1433delinsCCAACAGCCCA | NP_001280124.1:p.Thr476_Met478delinsProThrAlaGln | |
| NM_001293196.1:c.1150_1157delinsCCAACAGCCCA | NP_001280125.1:p.Thr384_Met386delinsProThrAlaGln | |
| NM_012222.2:c.1501_1508delinsCCAACAGCCCA | NP_036354.1:p.Thr501_Met503delinsProThrAlaGln | |
| XM_011541497.1:c.1486_1493delinsCCAACAGCCCA | XP_011539799.1:p.Thr496_Met498delinsProThrAlaGln | |
| XM_011541498.1:c.1468_1475delinsCCAACAGCCCA | XP_011539800.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541499.1:c.1468_1475delinsCCAACAGCCCA | XP_011539801.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541500.1:c.1468_1475delinsCCAACAGCCCA | XP_011539802.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541501.1:c.1468_1475delinsCCAACAGCCCA | XP_011539803.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541502.1:c.1468_1475delinsCCAACAGCCCA | XP_011539804.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541503.1:c.1468_1475delinsCCAACAGCCCA | XP_011539805.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541504.1:c.1459_1466delinsCCAACAGCCCA | XP_011539806.1:p.Thr487_Met489delinsProThrAlaGln | |
| XM_011541505.1:c.1048_1055delinsCCAACAGCCCA | XP_011539807.1:p.Thr350_Met352delinsProThrAlaGln | |
| XM_011541506.1:c.1048_1055delinsCCAACAGCCCA | XP_011539808.1:p.Thr350_Met352delinsProThrAlaGln | |
| XM_011541507.1:c.1039_1046delinsCCAACAGCCCA | XP_011539809.1:p.Thr347_Met349delinsProThrAlaGln | |
| XM_011541508.1:c.1054_1061delinsCCAACAGCCCA | XP_011539810.1:p.Thr352_Met354delinsProThrAlaGln | |
| XR_946658.1:n.1557_1564delinsCCAACAGCCCA | ||
| NM_001350650.1:c.1081_1088delinsCCAACAGCCCA | NP_001337579.1:p.Thr361_Met363delinsProThrAlaGln | |
| NM_001350651.1:c.1081_1088delinsCCAACAGCCCA | NP_001337580.1:p.Thr361_Met363delinsProThrAlaGln | |
| NR_146882.1:n.1684_1691delinsCCAACAGCCCA | ||
| NR_146883.1:n.1498_1505delinsCCAACAGCCCA | ||
| XM_011541497.3:c.1486_1493delinsCCAACAGCCCA | XP_011539799.1:p.Thr496_Met498delinsProThrAlaGln | |
| XM_011541500.3:c.1468_1475delinsCCAACAGCCCA | XP_011539802.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541501.2:c.1468_1475delinsCCAACAGCCCA | XP_011539803.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541502.2:c.1468_1475delinsCCAACAGCCCA | XP_011539804.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541503.2:c.1468_1475delinsCCAACAGCCCA | XP_011539805.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_011541504.2:c.1459_1466delinsCCAACAGCCCA | XP_011539806.1:p.Thr487_Met489delinsProThrAlaGln | |
| XM_011541505.2:c.1048_1055delinsCCAACAGCCCA | XP_011539807.1:p.Thr350_Met352delinsProThrAlaGln | |
| XM_011541506.2:c.1048_1055delinsCCAACAGCCCA | XP_011539808.1:p.Thr350_Met352delinsProThrAlaGln | |
| XM_017001331.1:c.1468_1475delinsCCAACAGCCCA | XP_016856820.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_017001332.1:c.1468_1475delinsCCAACAGCCCA | XP_016856821.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_017001333.1:c.1468_1475delinsCCAACAGCCCA | XP_016856822.1:p.Thr490_Met492delinsProThrAlaGln | |
| XM_017001334.1:c.1429_1436delinsCCAACAGCCCA | XP_016856823.1:p.Thr477_Met479delinsProThrAlaGln | |
| XM_017001335.1:c.1150_1157delinsCCAACAGCCCA | XP_016856824.1:p.Thr384_Met386delinsProThrAlaGln | |
| XM_017001336.1:c.1081_1088delinsCCAACAGCCCA | XP_016856825.1:p.Thr361_Met363delinsProThrAlaGln | |
| XM_017001337.1:c.1081_1088delinsCCAACAGCCCA | XP_016856826.1:p.Thr361_Met363delinsProThrAlaGln | |
| XM_024447244.1:c.1081_1088delinsCCAACAGCCCA | XP_024303012.1:p.Thr361_Met363delinsProThrAlaGln | |
| XM_024447245.1:c.1081_1088delinsCCAACAGCCCA | XP_024303013.1:p.Thr361_Met363delinsProThrAlaGln | |
| XM_024447248.1:c.1039_1046delinsCCAACAGCCCA | XP_024303016.1:p.Thr347_Met349delinsProThrAlaGln | |
| XM_024447249.1:c.910_917delinsCCAACAGCCCA | XP_024303017.1:p.Thr304_Met306delinsProThrAlaGln | |
| XM_024447250.1:c.910_917delinsCCAACAGCCCA | XP_024303018.1:p.Thr304_Met306delinsProThrAlaGln | |
| XM_024447251.1:c.910_917delinsCCAACAGCCCA | XP_024303019.1:p.Thr304_Met306delinsProThrAlaGln | |
| XR_001737190.1:n.1471_1478delinsCCAACAGCCCA | ||
| XR_001737192.1:n.1283_1290delinsCCAACAGCCCA | ||
| XR_002956643.1:n.1463_1470delinsCCAACAGCCCA | ||
| XR_002956644.1:n.1998_2005delinsCCAACAGCCCA | ||
| XR_946658.2:n.1571_1578delinsCCAACAGCCCA | ||
| NM_001048171.2:c.1426_1433delinsCCAACAGCCCA | NP_001041636.2:p.Thr476_Met478delinsProThrAlaGln | |
| NM_001128425.2:c.1510_1517delinsCCAACAGCCCA MANE Plus Clinical | NP_001121897.1:p.Thr504_Met506delinsProThrAlaGln | |
| NM_001048172.2:c.1429_1436delinsCCAACAGCCCA | NP_001041637.1:p.Thr477_Met479delinsProThrAlaGln | |
| NM_001048173.2:c.1426_1433delinsCCAACAGCCCA | NP_001041638.1:p.Thr476_Met478delinsProThrAlaGln | |
| NM_001048174.2:c.1426_1433delinsCCAACAGCCCA MANE Select | NP_001041639.1:p.Thr476_Met478delinsProThrAlaGln | |
| NM_001293190.2:c.1471_1478delinsCCAACAGCCCA | NP_001280119.1:p.Thr491_Met493delinsProThrAlaGln | |
| NM_001293191.2:c.1459_1466delinsCCAACAGCCCA | NP_001280120.1:p.Thr487_Met489delinsProThrAlaGln | |
| NM_001293192.2:c.1150_1157delinsCCAACAGCCCA | NP_001280121.1:p.Thr384_Met386delinsProThrAlaGln | |
| NM_001293195.2:c.1426_1433delinsCCAACAGCCCA | NP_001280124.1:p.Thr476_Met478delinsProThrAlaGln | |
| NM_001293196.2:c.1150_1157delinsCCAACAGCCCA | NP_001280125.1:p.Thr384_Met386delinsProThrAlaGln | |
| NM_001350650.2:c.1081_1088delinsCCAACAGCCCA | NP_001337579.1:p.Thr361_Met363delinsProThrAlaGln | |
| NM_001350651.2:c.1081_1088delinsCCAACAGCCCA | NP_001337580.1:p.Thr361_Met363delinsProThrAlaGln | |
| NM_012222.3:c.1501_1508delinsCCAACAGCCCA | NP_036354.1:p.Thr501_Met503delinsProThrAlaGln | |
| NR_146882.2:n.1654_1661delinsCCAACAGCCCA | ||
| NR_146883.2:n.1503_1510delinsCCAACAGCCCA |