Linked Data
dbSNP Id:
rs2076324323
gnomAD v3:
10-53822266-TGGAGGAAGAGGA-T
gnomAD v4:
10-53822266-TGGAGGAAGAGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822268_53822279del , CM000672.2:g.53822268_53822279del | GRCh38 |
| NC_000010.10:g.55582028_55582039del , CM000672.1:g.55582028_55582039del | GRCh37 |
| NC_000010.9:g.55252034_55252045del | NCBI36 |
| NG_009191.2:g.984014_984025del | |
| NG_009191.3:g.1811905_1811916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2858_4409+2869del | ENSP00000482794.1:n.4409+2858_4409+2869del | |
| ENST00000320301.11:c.5448_5459del MANE Plus Clinical | ENSP00000322604.6:p.Pro1817_Pro1820del | |
| ENST00000395445.6:c.4388+5115_4388+5126del | ENSP00000378832.2:n.4388+5115_4388+5126del | |
| ENST00000613657.5:c.4409+2858_4409+2869del | ENSP00000482794.1:n.4409+2858_4409+2869del | |
| ENST00000642496.1:c.3227-2048_3227-2037del | ||
| ENST00000644397.2:c.4368-2048_4368-2037del MANE Select | ENSP00000495195.1:n.4368-2048_4368-2037del | |
| ENST00000320301.10:c.5448_5459del | ENSP00000322604.6:p.Pro1817_Pro1820del | |
| ENST00000361849.7:c.5454_5465del | ENSP00000354950.3:p.Pro1819_Pro1822del | |
| ENST00000373956.7:c.*3403_*3414del | ENSP00000363067.4:n.*3403_*3414del | |
| ENST00000373957.7:c.5469_5480del | ENSP00000363068.4:p.Pro1824_Pro1827del | |
| ENST00000373965.6:c.4373+2858_4373+2869del | ENSP00000363076.3:n.4373+2858_4373+2869del | |
| ENST00000395430.5:c.5439_5450del | ENSP00000378818.1:p.Pro1814_Pro1817del | |
| ENST00000395432.6:c.5328_5339del | ENSP00000378820.2:p.Pro1777_Pro1780del | |
| ENST00000395433.5:c.5379_5390del | ENSP00000378821.1:p.Pro1794_Pro1797del | |
| ENST00000395438.5:c.4371+5114_4371+5125del | ENSP00000378826.2:n.4371+5114_4371+5125del | |
| ENST00000395440.5:c.1306-12732_1306-12721del | ENSP00000378827.1:n.1306-12732_1306-12721del | |
| ENST00000395442.5:c.1099-12732_1099-12721del | ENSP00000378829.1:n.1099-12732_1099-12721del | |
| ENST00000395445.5:c.4388+5115_4388+5126del | ENSP00000378832.2:n.4388+5115_4388+5126del | |
| ENST00000395446.5:c.2092-12732_2092-12721del | ENSP00000378833.1:n.2092-12732_2092-12721del | |
| ENST00000409834.5:c.3206+2858_3206+2869del | ENSP00000386693.1:n.3206+2858_3206+2869del | |
| ENST00000414367.5:c.*447+5115_*447+5126del | ENSP00000412531.1:n.*447+5115_*447+5126del | |
| ENST00000414778.5:c.4370+5115_4370+5126del | ENSP00000410304.2:n.4370+5115_4370+5126del | |
| ENST00000437009.5:c.5241_5252del | ENSP00000412628.2:p.Pro1748_Pro1751del | |
| ENST00000448885.5:c.*3409_*3420del | ENSP00000412320.1:n.*3409_*3420del | |
| ENST00000463095.2:n.2467_2478del | ||
| ENST00000495484.5:c.462-4265_462-4254del | ENSP00000480780.1:n.462-4265_462-4254del | |
| ENST00000612394.4:c.4406+5115_4406+5126del | ENSP00000482921.1:n.4406+5115_4406+5126del | |
| ENST00000613657.4:c.4409+2858_4409+2869del | ENSP00000482794.1:n.4409+2858_4409+2869del | |
| ENST00000614895.4:c.4385+5115_4385+5126del | ENSP00000478512.1:n.4385+5115_4385+5126del | |
| ENST00000616114.4:c.4367+5115_4367+5126del | ENSP00000483745.1:n.4367+5115_4367+5126del | |
| ENST00000617051.4:c.5475_5486del | ENSP00000484703.1:p.Pro1826_Pro1829del | |
| ENST00000617271.4:c.4373+2858_4373+2869del | ENSP00000478076.1:n.4373+2858_4373+2869del | |
| ENST00000618301.4:c.594-4265_594-4254del | ENSP00000482780.1:n.594-4265_594-4254del | |
| ENST00000621708.4:c.4388+2858_4388+2869del | ENSP00000484454.1:n.4388+2858_4388+2869del | |
| ENST00000622048.4:c.5247_5258del | ENSP00000482329.1:p.Pro1750_Pro1753del | |
| NM_001142763.1:c.5469_5480del | NP_001136235.1:p.Pro1824_Pro1827del | |
| NM_001142764.1:c.5454_5465del | NP_001136236.1:p.Pro1819_Pro1822del | |
| NM_001142765.1:c.5241_5252del | NP_001136237.1:p.Pro1748_Pro1751del | |
| NM_001142766.1:c.5439_5450del | NP_001136238.1:p.Pro1814_Pro1817del | |
| NM_001142767.1:c.5328_5339del | NP_001136239.1:p.Pro1777_Pro1780del | |
| NM_001142768.1:c.5388_5399del | NP_001136240.1:p.Pro1797_Pro1800del | |
| NM_001142769.1:c.4409+2858_4409+2869del | NP_001136241.1:n.4409+2858_4409+2869del | |
| NM_001142770.1:c.4373+2858_4373+2869del | NP_001136242.1:n.4373+2858_4373+2869del | |
| NM_001142771.1:c.4388+2858_4388+2869del | NP_001136243.1:n.4388+2858_4388+2869del | |
| NM_001142772.1:c.4373+2858_4373+2869del | NP_001136244.1:n.4373+2858_4373+2869del | |
| NM_001142773.1:c.5379_5390del | NP_001136245.1:p.Pro1794_Pro1797del | |
| NM_033056.3:c.5448_5459del | NP_149045.3:p.Pro1817_Pro1820del | |
| NM_001142769.2:c.4409+2858_4409+2869del | NP_001136241.1:n.4409+2858_4409+2869del | |
| NM_001142770.2:c.4373+2858_4373+2869del | NP_001136242.1:n.4373+2858_4373+2869del | |
| NM_001354404.1:c.5382_5393del | NP_001341333.1:p.Pro1795_Pro1798del | |
| NM_001354411.1:c.4388+5115_4388+5126del | NP_001341340.1:n.4388+5115_4388+5126del | |
| NM_001354420.1:c.4367+5115_4367+5126del | NP_001341349.1:n.4367+5115_4367+5126del | |
| NM_001354429.1:c.4368-4265_4368-4254del | NP_001341358.1:n.4368-4265_4368-4254del | |
| XM_017016573.2:c.4388+2858_4388+2869del | XP_016872062.1:n.4388+2858_4388+2869del | |
| XR_001747192.2:n.6461_6472del | ||
| XR_001747193.2:n.6452_6463del | ||
| NM_001142763.2:c.5469_5480del | NP_001136235.1:p.Pro1824_Pro1827del | |
| NM_001142764.2:c.5454_5465del | NP_001136236.1:p.Pro1819_Pro1822del | |
| NM_001142765.2:c.5241_5252del | NP_001136237.1:p.Pro1748_Pro1751del | |
| NM_001142766.2:c.5439_5450del | NP_001136238.1:p.Pro1814_Pro1817del | |
| NM_001142768.2:c.5388_5399del | NP_001136240.1:p.Pro1797_Pro1800del | |
| NM_001142769.3:c.4409+2858_4409+2869del | NP_001136241.1:n.4409+2858_4409+2869del | |
| NM_001142770.3:c.4373+2858_4373+2869del | NP_001136242.1:n.4373+2858_4373+2869del | |
| NM_001142771.2:c.4388+2858_4388+2869del | NP_001136243.1:n.4388+2858_4388+2869del | |
| NM_001142772.2:c.4373+2858_4373+2869del | NP_001136244.1:n.4373+2858_4373+2869del | |
| NM_001142773.2:c.5379_5390del | NP_001136245.1:p.Pro1794_Pro1797del | |
| NM_001354411.2:c.4388+5115_4388+5126del | NP_001341340.1:n.4388+5115_4388+5126del | |
| NM_001354420.2:c.4367+5115_4367+5126del | NP_001341349.1:n.4367+5115_4367+5126del | |
| NM_001354429.2:c.4368-4265_4368-4254del | NP_001341358.1:n.4368-4265_4368-4254del | |
| NM_033056.4:c.5448_5459del MANE Plus Clinical | NP_149045.3:p.Pro1817_Pro1820del | |
| NM_001142767.2:c.5328_5339del | NP_001136239.1:p.Pro1777_Pro1780del | |
| NM_001354404.2:c.5382_5393del | NP_001341333.1:p.Pro1795_Pro1798del | |
| NM_001384140.1:c.4368-2048_4368-2037del MANE Select | NP_001371069.1:n.4368-2048_4368-2037del |