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_000022.11:g.38132397_38132427delinsGCGTGTGTCACTTAGACATTCTGTAGAGGGT , CM000684.2:g.38132397_38132427delinsGCGTGTGTCACTTAGACATTCTGTAGAGGGT | GRCh38 |
| NC_000022.10:g.38528404_38528434delinsGCGTGTGTCACTTAGACATTCTGTAGAGGGT , CM000684.1:g.38528404_38528434delinsGCGTGTGTCACTTAGACATTCTGTAGAGGGT | GRCh37 |
| NC_000022.9:g.36858350_36858380delinsGCGTGTGTCACTTAGACATTCTGTAGAGGGT | NCBI36 |
| NG_007094.2:g.78264_78294delinsACCCTCTACAGAATGTCTAAGTGACACACGC | |
| NG_007094.3:g.87352_87382delinsACCCTCTACAGAATGTCTAAGTGACACACGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC MANE Select | ENSP00000333142.3:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000427114.6:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000407743.2:n.543+404_543+434delinsACCCTCTACAGAATGTCTAA... | |
| ENST00000436218.6:c.*437+404_*437+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000401242.1:n.*437+404_*437+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000655142.1:c.889+404_889+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499715.1:n.889+404_889+434delinsACCCTCTACAGAATGTCTAA... | |
| ENST00000660610.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499555.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000663895.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499712.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000664587.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499394.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000665987.1:c.*978+404_*978+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499423.1:n.*978+404_*978+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000667521.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499665.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000668208.1:n.1207+404_1207+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| ENST00000668499.1:c.*908+404_*908+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499626.1:n.*908+404_*908+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000668949.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000499711.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000671093.1:n.1171+404_1171+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| ENST00000673413.1:c.*908+404_*908+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000500600.1:n.*908+404_*908+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000332509.7:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000333142.3:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000335539.7:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000335149.3:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000402064.5:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000386100.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCT... | |
| ENST00000427114.5:c.491+404_491+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| ENST00000427453.5:c.333-316_333-286delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| ENST00000448094.5:c.258+404_258+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ENSP00000407106.1:n.258+404_258+434delinsACCCTCTACAGAATGTCTAA... | |
| ENST00000452542.5:c.569+404_569+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| ENST00000452794.5:c.47+404_47+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| ENST00000471636.5:n.413-5900_413-5870delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| NM_001004426.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001004426.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001199562.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001186491.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_003560.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_003551.2:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGA... | |
| XM_005261764.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_005261821.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_005261765.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_005261822.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_005261766.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_005261823.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_005261771.3:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_005261828.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_006724332.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_006724395.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_011530422.1:c.972+404_972+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528724.1:n.972+404_972+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_011530423.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528725.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_011530424.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528726.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_011530425.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528727.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_011530426.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528728.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_011530427.1:c.972+404_972+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528729.1:n.972+404_972+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_011530428.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528730.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XR_244390.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_244392.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_430411.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_430412.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_937937.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_937938.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_937939.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_937940.1:n.1185+404_1185+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| NM_001004426.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001004426.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001199562.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001186491.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349864.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336793.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349865.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336794.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349866.1:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336795.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349867.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336796.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| NM_001349868.1:c.399+404_399+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336797.1:n.399+404_399+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| NM_001349869.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336798.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| NM_003560.3:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_003551.2:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGA... | |
| XM_005261764.3:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_005261821.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_005261765.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_005261822.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_006724332.4:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_006724395.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_011530426.3:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_011528728.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_017028983.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_016884472.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_017028986.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_016884475.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_017028987.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_016884476.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_017028988.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_016884477.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| XM_024452280.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_024308048.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_024452281.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_024308049.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_024452282.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_024308050.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_024452283.1:c.399+404_399+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_024308051.1:n.399+404_399+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_024452284.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_024308052.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XM_024452285.1:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | XP_024308053.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| XR_001755325.2:n.1169+404_1169+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_001755327.2:n.1169+404_1169+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_001755328.2:n.1169+404_1169+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_244390.3:n.1169+404_1169+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_937938.3:n.1169+404_1169+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_937939.3:n.1169+404_1169+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| XR_937940.3:n.1169+404_1169+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | ||
| NM_001199562.3:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001186491.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349864.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336793.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349865.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336794.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349866.2:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336795.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... | |
| NM_001349867.2:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336796.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| NM_001349868.2:c.399+404_399+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336797.1:n.399+404_399+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| NM_001349869.2:c.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001336798.1:n.543+404_543+434delinsACCCTCTACAGAATGTCTAAGTG... | |
| NM_003560.4:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC MANE Select | NP_003551.2:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGA... | |
| NM_001004426.3:c.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAGTGACACACGC | NP_001004426.1:n.1077+404_1077+434delinsACCCTCTACAGAATGTCTAAG... |