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_000002.12:g.166002260_166002261delinsGT , CM000664.2:g.166002260_166002261delinsGT | GRCh38 |
| NC_000002.11:g.166858770_166858771delinsGT , CM000664.1:g.166858770_166858771delinsGT | GRCh37 |
| NC_000002.10:g.166567016_166567017delinsGT | NCBI36 |
| NG_011906.1:g.76379_76380delinsAC , LRG_8:g.76379_76380delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689288.1:c.*2320+211_*2320+212delinsAC | ENSP00000509637.1:n.*2320+211_*2320+212delinsAC | |
| ENST00000303395.9:c.4284+211_4284+212delinsAC | ENSP00000303540.4:n.4284+211_4284+212delinsAC | |
| ENST00000635750.1:c.4251+211_4251+212delinsAC | ENSP00000490799.1:n.4251+211_4251+212delinsAC | |
| ENST00000635776.1:c.4251+211_4251+212delinsAC | ENSP00000490692.1:n.4251+211_4251+212delinsAC | |
| ENST00000635893.1:c.15+211_15+212delinsAC | ENSP00000489986.1:n.15+211_15+212delinsAC | |
| ENST00000636194.1:c.*1777+211_*1777+212delinsAC | ENSP00000490288.1:n.*1777+211_*1777+212delinsAC | |
| ENST00000637038.1:c.1146+211_1146+212delinsAC | ||
| ENST00000637988.1:c.4251+211_4251+212delinsAC | ENSP00000490780.1:n.4251+211_4251+212delinsAC | |
| ENST00000640036.1:c.4251+211_4251+212delinsAC | ENSP00000491573.1:n.4251+211_4251+212delinsAC | |
| ENST00000641575.1:c.4248+211_4248+212delinsAC | ENSP00000492917.1:n.4248+211_4248+212delinsAC | |
| ENST00000641603.1:c.4003-2485_4003-2484delinsAC | ENSP00000492945.1:n.4003-2485_4003-2484delinsAC | |
| ENST00000641996.1:c.*3838+211_*3838+212delinsAC | ENSP00000493054.1:n.*3838+211_*3838+212delinsAC | |
| ENST00000671940.1:c.*2227+211_*2227+212delinsAC | ENSP00000500336.1:n.*2227+211_*2227+212delinsAC | |
| ENST00000673490.1:n.6757+211_6757+212delinsAC | ||
| ENST00000674923.1:c.4284+211_4284+212delinsAC MANE Select | ENSP00000501589.1:n.4284+211_4284+212delinsAC | |
| ENST00000303395.8:c.4284+211_4284+212delinsAC | ENSP00000303540.4:n.4284+211_4284+212delinsAC | |
| ENST00000375405.7:c.4251+211_4251+212delinsAC | ENSP00000364554.3:n.4251+211_4251+212delinsAC | |
| ENST00000409050.1:c.4200+211_4200+212delinsAC | ENSP00000386312.1:n.4200+211_4200+212delinsAC | |
| ENST00000423058.6:c.4284+211_4284+212delinsAC | ENSP00000407030.2:n.4284+211_4284+212delinsAC | |
| ENST00000491429.1:n.437+211_437+212delinsAC | ||
| NM_001165963.1:c.4284+211_4284+212delinsAC | NP_001159435.1:n.4284+211_4284+212delinsAC | |
| NM_001165964.1:c.4200+211_4200+212delinsAC | NP_001159436.1:n.4200+211_4200+212delinsAC | |
| NM_001202435.1:c.4284+211_4284+212delinsAC | NP_001189364.1:n.4284+211_4284+212delinsAC | |
| NM_006920.4:c.4251+211_4251+212delinsAC , LRG_8t1:c.4251+211_4251+212delinsAC | NP_008851.3:n.4251+211_4251+212delinsAC | |
| NR_110598.1:n.176-13353_176-13352delinsGT | ||
| XM_011511598.1:c.4284+211_4284+212delinsAC | XP_011509900.1:n.4284+211_4284+212delinsAC | |
| XM_011511599.1:c.4284+211_4284+212delinsAC | XP_011509901.1:n.4284+211_4284+212delinsAC | |
| XM_011511600.1:c.4284+211_4284+212delinsAC | XP_011509902.1:n.4284+211_4284+212delinsAC | |
| XM_011511601.1:c.4284+211_4284+212delinsAC | XP_011509903.1:n.4284+211_4284+212delinsAC | |
| XM_011511602.1:c.4284+211_4284+212delinsAC | XP_011509904.1:n.4284+211_4284+212delinsAC | |
| XM_011511603.1:c.4281+211_4281+212delinsAC | XP_011509905.1:n.4281+211_4281+212delinsAC | |
| XM_011511604.1:c.4251+211_4251+212delinsAC | XP_011509906.1:n.4251+211_4251+212delinsAC | |
| XM_011511605.1:c.4248+211_4248+212delinsAC | XP_011509907.1:n.4248+211_4248+212delinsAC | |
| XM_011511606.1:c.4200+211_4200+212delinsAC | XP_011509908.1:n.4200+211_4200+212delinsAC | |
| XM_011511607.1:c.4003-2485_4003-2484delinsAC | XP_011509909.1:n.4003-2485_4003-2484delinsAC | |
| XR_922981.1:n.4532+211_4532+212delinsAC | ||
| NM_001165963.2:c.4284+211_4284+212delinsAC | NP_001159435.1:n.4284+211_4284+212delinsAC | |
| NM_001165964.2:c.4200+211_4200+212delinsAC | NP_001159436.1:n.4200+211_4200+212delinsAC | |
| NM_001202435.2:c.4284+211_4284+212delinsAC | NP_001189364.1:n.4284+211_4284+212delinsAC | |
| NM_001353948.1:c.4284+211_4284+212delinsAC | NP_001340877.1:n.4284+211_4284+212delinsAC | |
| NM_001353949.1:c.4251+211_4251+212delinsAC | NP_001340878.1:n.4251+211_4251+212delinsAC | |
| NM_001353950.1:c.4251+211_4251+212delinsAC | NP_001340879.1:n.4251+211_4251+212delinsAC | |
| NM_001353951.1:c.4251+211_4251+212delinsAC | NP_001340880.1:n.4251+211_4251+212delinsAC | |
| NM_001353952.1:c.4251+211_4251+212delinsAC | NP_001340881.1:n.4251+211_4251+212delinsAC | |
| NM_001353954.1:c.4248+211_4248+212delinsAC | NP_001340883.1:n.4248+211_4248+212delinsAC | |
| NM_001353955.1:c.4248+211_4248+212delinsAC | NP_001340884.1:n.4248+211_4248+212delinsAC | |
| NM_001353957.1:c.4200+211_4200+212delinsAC | NP_001340886.1:n.4200+211_4200+212delinsAC | |
| NM_001353958.1:c.4200+211_4200+212delinsAC | NP_001340887.1:n.4200+211_4200+212delinsAC | |
| NM_001353960.1:c.4197+211_4197+212delinsAC | NP_001340889.1:n.4197+211_4197+212delinsAC | |
| NM_001353961.1:c.1842+211_1842+212delinsAC | NP_001340890.1:n.1842+211_1842+212delinsAC | |
| NM_006920.5:c.4251+211_4251+212delinsAC | NP_008851.3:n.4251+211_4251+212delinsAC | |
| NR_148667.1:n.4720+211_4720+212delinsAC | ||
| XR_001738883.1:n.4734+211_4734+212delinsAC | ||
| XR_001738884.1:n.4706+211_4706+212delinsAC | ||
| NM_001165963.3:c.4284+211_4284+212delinsAC | NP_001159435.1:n.4284+211_4284+212delinsAC | |
| NM_001165964.3:c.4200+211_4200+212delinsAC | NP_001159436.1:n.4200+211_4200+212delinsAC | |
| NM_001202435.3:c.4284+211_4284+212delinsAC | NP_001189364.1:n.4284+211_4284+212delinsAC | |
| NM_001353948.2:c.4284+211_4284+212delinsAC | NP_001340877.1:n.4284+211_4284+212delinsAC | |
| NM_001353949.2:c.4251+211_4251+212delinsAC | NP_001340878.1:n.4251+211_4251+212delinsAC | |
| NM_001353950.2:c.4251+211_4251+212delinsAC | NP_001340879.1:n.4251+211_4251+212delinsAC | |
| NM_001353951.2:c.4251+211_4251+212delinsAC | NP_001340880.1:n.4251+211_4251+212delinsAC | |
| NM_001353952.2:c.4251+211_4251+212delinsAC | NP_001340881.1:n.4251+211_4251+212delinsAC | |
| NM_001353954.2:c.4248+211_4248+212delinsAC | NP_001340883.1:n.4248+211_4248+212delinsAC | |
| NM_001353955.2:c.4248+211_4248+212delinsAC | NP_001340884.1:n.4248+211_4248+212delinsAC | |
| NM_001353957.2:c.4200+211_4200+212delinsAC | NP_001340886.1:n.4200+211_4200+212delinsAC | |
| NM_001353958.2:c.4200+211_4200+212delinsAC | NP_001340887.1:n.4200+211_4200+212delinsAC | |
| NM_001353960.2:c.4197+211_4197+212delinsAC | NP_001340889.1:n.4197+211_4197+212delinsAC | |
| NM_001353961.2:c.1842+211_1842+212delinsAC | NP_001340890.1:n.1842+211_1842+212delinsAC | |
| NM_006920.6:c.4251+211_4251+212delinsAC | NP_008851.3:n.4251+211_4251+212delinsAC | |
| NR_148667.2:n.4701+211_4701+212delinsAC | ||
| NM_001165963.4:c.4284+211_4284+212delinsAC MANE Select | NP_001159435.1:n.4284+211_4284+212delinsAC |