Linked Data
gnomAD v3:
15-72347283-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
15-72347283-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72347290_72347291insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.2:g.72347290_72347291insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000015.9:g.72639631_72639632insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.1:g.72639631_72639632insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000015.8:g.70426685_70426686insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_009017.1:g.33896_33897insAAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NG_009017.2:g.33896_33897insAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1073+764_1073+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000457521.2:n.1073+764_1073+765insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682061.1:c.*808+402_*808+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508316.1:n.*808+402_*808+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682177.1:c.1189+402_1189+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507409.1:n.1189+402_1189+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682461.1:c.1252+402_1252+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507308.1:n.1252+402_1252+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682653.1:n.1466+402_1466+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000682657.1:c.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507753.1:n.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682721.1:c.*949+402_*949+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507535.1:n.*949+402_*949+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000682843.1:c.*971+764_*971+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508173.1:n.*971+764_*971+765insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683003.1:c.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507576.1:n.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683133.1:c.1330+402_1330+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508108.1:n.1330+402_1330+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683228.1:n.1579_1580insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000683243.1:c.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507042.1:n.*483+764_*483+765insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683463.1:c.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507986.1:n.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683548.1:n.1104+764_1104+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000683579.1:c.*1044+402_*1044+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506867.1:n.*1044+402_*1044+403insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683587.1:n.1177+402_1177+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000683681.1:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508110.1:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683735.1:c.*1044+402_*1044+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508336.1:n.*1044+402_*1044+403insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683742.1:n.1379_1380insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000683853.1:c.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506834.1:n.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683860.1:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507179.1:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000683884.1:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507004.1:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684041.1:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508382.1:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684125.1:c.1073+764_1073+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507320.1:n.1073+764_1073+765insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684203.1:n.2912-574_2912-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000684231.1:c.*556+402_*556+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507748.1:n.*556+402_*556+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684263.1:c.*86+402_*86+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000508369.1:n.*86+402_*86+403insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684305.1:c.1594+402_1594+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506819.1:n.1594+402_1594+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684415.1:c.*14-574_*14-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507227.1:n.*14-574_*14-573insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684520.1:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000506826.1:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684602.1:c.*812+402_*812+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507996.1:n.*812+402_*812+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000684667.1:c.1477+402_1477+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000507003.1:n.1477+402_1477+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000268097.10:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000268097.6:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000268097.9:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000268097.5:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000379915.4:c.413-959_413-958insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000478716.1:n.413-959_413-958insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000563762.5:c.825+764_825+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000456346.1:n.825+764_825+765insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000566304.5:c.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000455114.1:n.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000566672.5:c.*556+402_*556+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000457037.1:n.*556+402_*556+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000567027.5:c.945+764_945+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000567159.5:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000456489.1:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000567411.5:c.*667+402_*667+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000455545.1:n.*667+402_*667+403insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000568777.5:n.6550+402_6550+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000569410.5:c.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000457125.1:n.1074-574_1074-573insAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000520.4:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000511.2:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000520.5:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000511.2:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318825.1:c.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001305754.1:n.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_134869.1:n.1574+764_1574+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_000520.6:c.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_000511.2:n.1146+402_1146+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001318825.2:c.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001305754.1:n.1179+402_1179+403insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_134869.2:n.1115+764_1115+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NR_134869.3:n.1115+764_1115+765insAAAAAAAAAAAAAAAAAAAAAAAAAAA |