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.
Linked Data
gnomAD v3:
15-72347210-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTAG
gnomAD v4:
15-72347210-T-TTTTTTTTTTTTTTTTTTTTTTTTTTTAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTAG , CM000677.2:g.72347210_72347211insTTTTTTTTTTTTTTTTTTTTTTTTTTAG | GRCh38 |
| NC_000015.9:g.72639551_72639552insTTTTTTTTTTTTTTTTTTTTTTTTTTAG , CM000677.1:g.72639551_72639552insTTTTTTTTTTTTTTTTTTTTTTTTTTAG | GRCh37 |
| NC_000015.8:g.70426605_70426606insTTTTTTTTTTTTTTTTTTTTTTTTTTAG | NCBI36 |
| NG_009017.1:g.33969_33970insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NG_009017.2:g.33969_33970insCTAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1073+837_1073+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000457521.2:n.1073+837_1073+838insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682061.1:c.*808+475_*808+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508316.1:n.*808+475_*808+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682177.1:c.1189+475_1189+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507409.1:n.1189+475_1189+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682461.1:c.1252+475_1252+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507308.1:n.1252+475_1252+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682653.1:n.1466+475_1466+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000682657.1:c.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507753.1:n.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682721.1:c.*949+475_*949+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507535.1:n.*949+475_*949+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682843.1:c.*971+837_*971+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508173.1:n.*971+837_*971+838insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683003.1:c.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507576.1:n.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683133.1:c.1330+475_1330+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508108.1:n.1330+475_1330+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683243.1:c.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507042.1:n.*483+837_*483+838insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683463.1:c.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507986.1:n.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683548.1:n.1104+837_1104+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000683579.1:c.*1044+475_*1044+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506867.1:n.*1044+475_*1044+476insCTAAAAAAAAAAAAAAAAA... | |
| ENST00000683587.1:n.1177+475_1177+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000683681.1:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508110.1:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683735.1:c.*1044+475_*1044+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508336.1:n.*1044+475_*1044+476insCTAAAAAAAAAAAAAAAAA... | |
| ENST00000683742.1:n.1452_1453insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000683853.1:c.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506834.1:n.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683860.1:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507179.1:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683884.1:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507004.1:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684041.1:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508382.1:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684125.1:c.1073+837_1073+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507320.1:n.1073+837_1073+838insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684203.1:n.2912-501_2912-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000684231.1:c.*556+475_*556+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507748.1:n.*556+475_*556+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684263.1:c.*86+475_*86+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508369.1:n.*86+475_*86+476insCTAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684305.1:c.1594+475_1594+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506819.1:n.1594+475_1594+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684415.1:c.*14-501_*14-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507227.1:n.*14-501_*14-500insCTAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684520.1:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506826.1:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684602.1:c.*812+475_*812+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507996.1:n.*812+475_*812+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684667.1:c.1477+475_1477+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507003.1:n.1477+475_1477+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000268097.10:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000268097.6:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000268097.9:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000268097.5:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000379915.4:c.413-886_413-885insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000478716.1:n.413-886_413-885insCTAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000563762.5:c.825+837_825+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000456346.1:n.825+837_825+838insCTAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000566304.5:c.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000455114.1:n.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000566672.5:c.*556+475_*556+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000457037.1:n.*556+475_*556+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000567027.5:c.945+837_945+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000567159.5:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000456489.1:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000567411.5:c.*667+475_*667+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000455545.1:n.*667+475_*667+476insCTAAAAAAAAAAAAAAAAAAA... | |
| ENST00000568777.5:n.6550+475_6550+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000569410.5:c.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000457125.1:n.1074-501_1074-500insCTAAAAAAAAAAAAAAAAAAA... | |
| NM_000520.4:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000511.2:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000520.5:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000511.2:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318825.1:c.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001305754.1:n.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_134869.1:n.1574+837_1574+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_000520.6:c.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_000511.2:n.1146+475_1146+476insCTAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318825.2:c.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001305754.1:n.1179+475_1179+476insCTAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_134869.2:n.1115+837_1115+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NR_134869.3:n.1115+837_1115+838insCTAAAAAAAAAAAAAAAAAAAAAAAAAA |