Linked Data
dbSNP Id:
rs1156524675
gnomAD v2:
10-55582130-TAGAAGGAGG-T
gnomAD v4:
10-53822370-TAGAAGGAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822374_53822382del , CM000672.2:g.53822374_53822382del | GRCh38 |
| NC_000010.10:g.55582134_55582142del , CM000672.1:g.55582134_55582142del | GRCh37 |
| NC_000010.9:g.55252140_55252148del | NCBI36 |
| NG_009191.2:g.983913_983921del | |
| NG_009191.3:g.1811804_1811812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2757_4409+2765del | ENSP00000482794.1:n.4409+2757_4409+2765del | |
| ENST00000320301.11:c.5347_5355del MANE Plus Clinical | ENSP00000322604.6:p.Pro1783_Ser1785del | |
| ENST00000395445.6:c.4388+5014_4388+5022del | ENSP00000378832.2:n.4388+5014_4388+5022del | |
| ENST00000613657.5:c.4409+2757_4409+2765del | ENSP00000482794.1:n.4409+2757_4409+2765del | |
| ENST00000642496.1:c.3227-2149_3227-2141del | ||
| ENST00000644397.2:c.4368-2149_4368-2141del MANE Select | ENSP00000495195.1:n.4368-2149_4368-2141del | |
| ENST00000320301.10:c.5347_5355del | ENSP00000322604.6:p.Pro1783_Ser1785del | |
| ENST00000361849.7:c.5353_5361del | ENSP00000354950.3:p.Pro1785_Ser1787del | |
| ENST00000373956.7:c.*3302_*3310del | ENSP00000363067.4:n.*3302_*3310del | |
| ENST00000373957.7:c.5368_5376del | ENSP00000363068.4:p.Pro1790_Ser1792del | |
| ENST00000373965.6:c.4373+2757_4373+2765del | ENSP00000363076.3:n.4373+2757_4373+2765del | |
| ENST00000395430.5:c.5338_5346del | ENSP00000378818.1:p.Pro1780_Ser1782del | |
| ENST00000395432.6:c.5227_5235del | ENSP00000378820.2:p.Pro1743_Ser1745del | |
| ENST00000395433.5:c.5278_5286del | ENSP00000378821.1:p.Pro1760_Ser1762del | |
| ENST00000395438.5:c.4371+5013_4371+5021del | ENSP00000378826.2:n.4371+5013_4371+5021del | |
| ENST00000395440.5:c.1306-12833_1306-12825del | ENSP00000378827.1:n.1306-12833_1306-12825del | |
| ENST00000395442.5:c.1099-12833_1099-12825del | ENSP00000378829.1:n.1099-12833_1099-12825del | |
| ENST00000395445.5:c.4388+5014_4388+5022del | ENSP00000378832.2:n.4388+5014_4388+5022del | |
| ENST00000395446.5:c.2092-12833_2092-12825del | ENSP00000378833.1:n.2092-12833_2092-12825del | |
| ENST00000409834.5:c.3206+2757_3206+2765del | ENSP00000386693.1:n.3206+2757_3206+2765del | |
| ENST00000414367.5:c.*447+5014_*447+5022del | ENSP00000412531.1:n.*447+5014_*447+5022del | |
| ENST00000414778.5:c.4370+5014_4370+5022del | ENSP00000410304.2:n.4370+5014_4370+5022del | |
| ENST00000437009.5:c.5140_5148del | ENSP00000412628.2:p.Pro1714_Ser1716del | |
| ENST00000448885.5:c.*3308_*3316del | ENSP00000412320.1:n.*3308_*3316del | |
| ENST00000463095.2:n.2366_2374del | ||
| ENST00000495484.5:c.462-4366_462-4358del | ENSP00000480780.1:n.462-4366_462-4358del | |
| ENST00000612394.4:c.4406+5014_4406+5022del | ENSP00000482921.1:n.4406+5014_4406+5022del | |
| ENST00000613657.4:c.4409+2757_4409+2765del | ENSP00000482794.1:n.4409+2757_4409+2765del | |
| ENST00000614895.4:c.4385+5014_4385+5022del | ENSP00000478512.1:n.4385+5014_4385+5022del | |
| ENST00000616114.4:c.4367+5014_4367+5022del | ENSP00000483745.1:n.4367+5014_4367+5022del | |
| ENST00000617051.4:c.5374_5382del | ENSP00000484703.1:p.Pro1792_Ser1794del | |
| ENST00000617271.4:c.4373+2757_4373+2765del | ENSP00000478076.1:n.4373+2757_4373+2765del | |
| ENST00000618301.4:c.594-4366_594-4358del | ENSP00000482780.1:n.594-4366_594-4358del | |
| ENST00000621708.4:c.4388+2757_4388+2765del | ENSP00000484454.1:n.4388+2757_4388+2765del | |
| ENST00000622048.4:c.5146_5154del | ENSP00000482329.1:p.Pro1716_Ser1718del | |
| NM_001142763.1:c.5368_5376del | NP_001136235.1:p.Pro1790_Ser1792del | |
| NM_001142764.1:c.5353_5361del | NP_001136236.1:p.Pro1785_Ser1787del | |
| NM_001142765.1:c.5140_5148del | NP_001136237.1:p.Pro1714_Ser1716del | |
| NM_001142766.1:c.5338_5346del | NP_001136238.1:p.Pro1780_Ser1782del | |
| NM_001142767.1:c.5227_5235del | NP_001136239.1:p.Pro1743_Ser1745del | |
| NM_001142768.1:c.5287_5295del | NP_001136240.1:p.Pro1763_Ser1765del | |
| NM_001142769.1:c.4409+2757_4409+2765del | NP_001136241.1:n.4409+2757_4409+2765del | |
| NM_001142770.1:c.4373+2757_4373+2765del | NP_001136242.1:n.4373+2757_4373+2765del | |
| NM_001142771.1:c.4388+2757_4388+2765del | NP_001136243.1:n.4388+2757_4388+2765del | |
| NM_001142772.1:c.4373+2757_4373+2765del | NP_001136244.1:n.4373+2757_4373+2765del | |
| NM_001142773.1:c.5278_5286del | NP_001136245.1:p.Pro1760_Ser1762del | |
| NM_033056.3:c.5347_5355del | NP_149045.3:p.Pro1783_Ser1785del | |
| NM_001142769.2:c.4409+2757_4409+2765del | NP_001136241.1:n.4409+2757_4409+2765del | |
| NM_001142770.2:c.4373+2757_4373+2765del | NP_001136242.1:n.4373+2757_4373+2765del | |
| NM_001354404.1:c.5281_5289del | NP_001341333.1:p.Pro1761_Ser1763del | |
| NM_001354411.1:c.4388+5014_4388+5022del | NP_001341340.1:n.4388+5014_4388+5022del | |
| NM_001354420.1:c.4367+5014_4367+5022del | NP_001341349.1:n.4367+5014_4367+5022del | |
| NM_001354429.1:c.4368-4366_4368-4358del | NP_001341358.1:n.4368-4366_4368-4358del | |
| XM_017016573.2:c.4388+2757_4388+2765del | XP_016872062.1:n.4388+2757_4388+2765del | |
| XR_001747192.2:n.6360_6368del | ||
| XR_001747193.2:n.6351_6359del | ||
| NM_001142763.2:c.5368_5376del | NP_001136235.1:p.Pro1790_Ser1792del | |
| NM_001142764.2:c.5353_5361del | NP_001136236.1:p.Pro1785_Ser1787del | |
| NM_001142765.2:c.5140_5148del | NP_001136237.1:p.Pro1714_Ser1716del | |
| NM_001142766.2:c.5338_5346del | NP_001136238.1:p.Pro1780_Ser1782del | |
| NM_001142768.2:c.5287_5295del | NP_001136240.1:p.Pro1763_Ser1765del | |
| NM_001142769.3:c.4409+2757_4409+2765del | NP_001136241.1:n.4409+2757_4409+2765del | |
| NM_001142770.3:c.4373+2757_4373+2765del | NP_001136242.1:n.4373+2757_4373+2765del | |
| NM_001142771.2:c.4388+2757_4388+2765del | NP_001136243.1:n.4388+2757_4388+2765del | |
| NM_001142772.2:c.4373+2757_4373+2765del | NP_001136244.1:n.4373+2757_4373+2765del | |
| NM_001142773.2:c.5278_5286del | NP_001136245.1:p.Pro1760_Ser1762del | |
| NM_001354411.2:c.4388+5014_4388+5022del | NP_001341340.1:n.4388+5014_4388+5022del | |
| NM_001354420.2:c.4367+5014_4367+5022del | NP_001341349.1:n.4367+5014_4367+5022del | |
| NM_001354429.2:c.4368-4366_4368-4358del | NP_001341358.1:n.4368-4366_4368-4358del | |
| NM_033056.4:c.5347_5355del MANE Plus Clinical | NP_149045.3:p.Pro1783_Ser1785del | |
| NM_001142767.2:c.5227_5235del | NP_001136239.1:p.Pro1743_Ser1745del | |
| NM_001354404.2:c.5281_5289del | NP_001341333.1:p.Pro1761_Ser1763del | |
| NM_001384140.1:c.4368-2149_4368-2141del MANE Select | NP_001371069.1:n.4368-2149_4368-2141del |