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_000015.10:g.77033101_77033102insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT , CM000677.2:g.77033101_77033102insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | GRCh38 |
| NC_000015.9:g.77325442_77325443insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT , CM000677.1:g.77325442_77325443insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | GRCh37 |
| NC_000015.8:g.75112497_75112498insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NCBI36 |
| NG_007526.1:g.42978_42979insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT , LRG_172:g.42978_42979insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.2095+149_2095+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| ENST00000697623.1:n.2348+149_2348+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| ENST00000558012.6:c.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT MANE Select | ENSP00000452746.1:n.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGT... | |
| ENST00000379595.7:c.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ENSP00000368914.3:n.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGT... | |
| ENST00000557995.1:n.593+149_593+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| ENST00000558012.5:c.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ENSP00000452746.1:n.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGT... | |
| ENST00000558870.1:c.78+707_78+708insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| ENST00000559295.5:c.872+673_872+674insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ENSP00000452743.1:n.872+673_872+674insGGAATGTAGGGCCCCAGCTGAGT... | |
| ENST00000559785.5:c.1158+149_1158+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ENSP00000452986.1:n.1158+149_1158+150insGGAATGTAGGGCCCCAGCTGA... | |
| ENST00000560223.5:c.*1031+149_*1031+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ENSP00000454118.1:n.*1031+149_*1031+150insGGAATGTAGGGCCCCAGCT... | |
| NM_003978.3:c.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT , LRG_172t1:c.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NP_003969.2:n.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCA... | |
| XM_006720737.2:c.563+149_563+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_006720800.1:n.563+149_563+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522163.1:c.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520465.1:n.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522164.1:c.884+149_884+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520466.1:n.884+149_884+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522165.1:c.782+149_782+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520467.1:n.782+149_782+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522166.1:c.1020+149_1020+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520468.1:n.1020+149_1020+150insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XM_011522167.1:c.895+707_895+708insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520469.1:n.895+707_895+708insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522168.1:c.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520470.1:n.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522169.1:c.798+1823_798+1824insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520471.1:n.798+1823_798+1824insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XM_011522170.1:c.372-2407_372-2406insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520472.1:n.372-2407_372-2406insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XM_011522171.1:c.312-2407_312-2406insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520473.1:n.312-2407_312-2406insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XM_011522172.1:c.312-2407_312-2406insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520474.1:n.312-2407_312-2406insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XM_011522173.1:c.312-2407_312-2406insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520475.1:n.312-2407_312-2406insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XR_931936.1:n.1470+149_1470+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XR_931937.1:n.1413+149_1413+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XR_931938.1:n.1345+707_1345+708insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XR_931939.1:n.1248+1823_1248+1824insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XR_931940.1:n.1070-2407_1070-2406insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| NM_001321135.1:c.872+673_872+674insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NP_001308064.1:n.872+673_872+674insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| NM_001321136.1:c.902+149_902+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NP_001308065.1:n.902+149_902+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| NM_001321137.1:c.1124+149_1124+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NP_001308066.1:n.1124+149_1124+150insGGAATGTAGGGCCCCAGCTGAGTC... | |
| NM_003978.4:c.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NP_003969.2:n.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCA... | |
| NR_135552.1:n.1150+1823_1150+1824insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XM_006720737.3:c.563+149_563+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_006720800.1:n.563+149_563+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522163.2:c.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520465.1:n.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522165.2:c.782+149_782+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520467.1:n.782+149_782+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522166.2:c.1020+149_1020+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520468.1:n.1020+149_1020+150insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XM_011522167.2:c.895+707_895+708insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520469.1:n.895+707_895+708insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522168.3:c.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520470.1:n.986+149_986+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| XM_011522169.2:c.798+1823_798+1824insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | XP_011520471.1:n.798+1823_798+1824insGGAATGTAGGGCCCCAGCTGAGTC... | |
| XR_931936.2:n.1468+149_1468+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XR_931937.2:n.1411+149_1411+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XR_931938.2:n.1343+707_1343+708insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| XR_931939.2:n.1246+1823_1246+1824insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | ||
| NM_001321135.2:c.872+673_872+674insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NP_001308064.1:n.872+673_872+674insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| NM_001321136.2:c.902+149_902+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT | NP_001308065.1:n.902+149_902+150insGGAATGTAGGGCCCCAGCTGAGTCTG... | |
| NM_003978.5:c.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT MANE Select | NP_003969.2:n.929+149_929+150insGGAATGTAGGGCCCCAGCTGAGTCTGGCA... | |
| NR_135552.2:n.1109+1823_1109+1824insGGAATGTAGGGCCCCAGCTGAGTCTGGCAGGGCCAGAATGGGGTGTTGGGGGCCGCCCTGGGGCTCACGGCTTGCTGTCTGCAGCTCCGGTGCCCT |