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_000006.12:g.152061270_152061302delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG , CM000668.2:g.152061270_152061302delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | GRCh38 |
| NC_000006.11:g.152382405_152382437delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG , CM000668.1:g.152382405_152382437delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | GRCh37 |
| NC_000006.10:g.152424098_152424130delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NCBI36 |
| NG_008493.1:g.375775_375807delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | |
| NG_008493.2:g.409580_409612delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206249.8:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG MANE Select | ENSP00000206249.3:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAG... | |
| ENST00000638569.1:c.43-33209_43-33177delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000491412.1:n.43-33209_43-33177delinsTGCAGATTCCTTATAAAG... | |
| ENST00000641399.1:n.697+146_697+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ||
| ENST00000206249.7:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000206249.3:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAG... | |
| ENST00000338799.9:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000342630.5:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAG... | |
| ENST00000406599.5:c.586+146_586+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000384064.1:n.586+146_586+178delinsTGCAGATTCCTTATAAAGGT... | |
| ENST00000427531.6:c.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000394721.2:n.850+146_850+178delinsTGCAGATTCCTTATAAAGGT... | |
| ENST00000440973.5:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000405330.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAG... | |
| ENST00000443427.5:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000387500.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAG... | |
| ENST00000456483.3:c.*244+146_*244+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ENSP00000415934.3:n.*244+146_*244+178delinsTGCAGATTCCTTATAAAG... | |
| NM_000125.3:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_000116.2:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAA... | |
| NM_001122740.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001116212.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001122741.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001116213.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001122742.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001116214.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001291230.1:c.1375+146_1375+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001278159.1:n.1375+146_1375+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001291241.1:c.1366+146_1366+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001278170.1:n.1366+146_1366+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_006715374.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_006715437.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_006715375.2:c.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_006715438.1:n.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XM_011535543.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533845.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535544.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533846.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535545.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533847.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535546.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533848.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535547.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533849.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535548.1:c.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533850.1:n.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XM_011535549.1:c.640+146_640+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533851.1:n.640+146_640+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XR_943116.1:n.7202_7234delinsCTAGCATGGTTCTACCTTTATAAGGAATCTGCA | ||
| NM_001328100.1:c.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001315029.1:n.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XM_006715374.3:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_006715437.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_006715375.3:c.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_006715438.1:n.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XM_011535543.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533845.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535544.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533846.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535545.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533847.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535547.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533849.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_011535549.2:c.640+146_640+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_011533851.1:n.640+146_640+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XM_017010376.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865865.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_017010377.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865866.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_017010378.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865867.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_017010379.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865868.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_017010380.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865869.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_017010381.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865870.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| XM_017010382.2:c.712+146_712+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865871.1:n.712+146_712+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XM_017010383.1:c.580+146_580+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | XP_016865872.1:n.580+146_580+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| XR_001743223.2:n.1600+146_1600+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ||
| XR_002956266.1:n.1600+146_1600+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | ||
| NM_000125.4:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG MANE Select | NP_000116.2:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAA... | |
| NM_001328100.2:c.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001315029.1:n.850+146_850+178delinsTGCAGATTCCTTATAAAGGTAGA... | |
| NM_001122740.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001116212.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001122741.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001116213.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001122742.2:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001116214.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001291230.2:c.1375+146_1375+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001278159.1:n.1375+146_1375+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001291241.2:c.1366+146_1366+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001278170.1:n.1366+146_1366+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001385568.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001372497.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001385569.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001372498.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001385570.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001372499.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001385571.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001372500.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... | |
| NM_001385572.1:c.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTAGAACCATGCTAG | NP_001372501.1:n.1369+146_1369+178delinsTGCAGATTCCTTATAAAGGTA... |