Linked Data
ClinVar Variation Id:
555887
ClinVar RCV Id:
RCV000671798
dbSNP Id:
rs779691085
gnomAD v3:
10-53822351-G-GGAGGAA
gnomAD v4:
10-53822351-G-GGAGGAA
MyVariant Identifiers:
chr10:g.53822352_53822357dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822362_53822367dup , CM000672.2:g.53822362_53822367dup | GRCh38 |
| NC_000010.10:g.55582122_55582127dup , CM000672.1:g.55582122_55582127dup | GRCh37 |
| NC_000010.9:g.55252128_55252133dup | NCBI36 |
| NG_009191.2:g.983935_983940dup | |
| NG_009191.3:g.1811826_1811831dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2779_4409+2784dup | ENSP00000482794.1:n.4409+2779_4409+2784dup | |
| ENST00000320301.11:c.5369_5374dup MANE Plus Clinical | ENSP00000322604.6:p.Pro1791_Pro1792insLeuPro | |
| ENST00000395445.6:c.4388+5036_4388+5041dup | ENSP00000378832.2:n.4388+5036_4388+5041dup | |
| ENST00000613657.5:c.4409+2779_4409+2784dup | ENSP00000482794.1:n.4409+2779_4409+2784dup | |
| ENST00000642496.1:c.3227-2127_3227-2122dup | ||
| ENST00000644397.2:c.4368-2127_4368-2122dup MANE Select | ENSP00000495195.1:n.4368-2127_4368-2122dup | |
| ENST00000320301.10:c.5369_5374dup | ENSP00000322604.6:p.Pro1791_Pro1792insLeuPro | |
| ENST00000361849.7:c.5375_5380dup | ENSP00000354950.3:p.Pro1793_Pro1794insLeuPro | |
| ENST00000373956.7:c.*3324_*3329dup | ENSP00000363067.4:n.*3324_*3329dup | |
| ENST00000373957.7:c.5390_5395dup | ENSP00000363068.4:p.Pro1798_Pro1799insLeuPro | |
| ENST00000373965.6:c.4373+2779_4373+2784dup | ENSP00000363076.3:n.4373+2779_4373+2784dup | |
| ENST00000395430.5:c.5360_5365dup | ENSP00000378818.1:p.Pro1788_Pro1789insLeuPro | |
| ENST00000395432.6:c.5249_5254dup | ENSP00000378820.2:p.Pro1751_Pro1752insLeuPro | |
| ENST00000395433.5:c.5300_5305dup | ENSP00000378821.1:p.Pro1768_Pro1769insLeuPro | |
| ENST00000395438.5:c.4371+5035_4371+5040dup | ENSP00000378826.2:n.4371+5035_4371+5040dup | |
| ENST00000395440.5:c.1306-12811_1306-12806dup | ENSP00000378827.1:n.1306-12811_1306-12806dup | |
| ENST00000395442.5:c.1099-12811_1099-12806dup | ENSP00000378829.1:n.1099-12811_1099-12806dup | |
| ENST00000395445.5:c.4388+5036_4388+5041dup | ENSP00000378832.2:n.4388+5036_4388+5041dup | |
| ENST00000395446.5:c.2092-12811_2092-12806dup | ENSP00000378833.1:n.2092-12811_2092-12806dup | |
| ENST00000409834.5:c.3206+2779_3206+2784dup | ENSP00000386693.1:n.3206+2779_3206+2784dup | |
| ENST00000414367.5:c.*447+5036_*447+5041dup | ENSP00000412531.1:n.*447+5036_*447+5041dup | |
| ENST00000414778.5:c.4370+5036_4370+5041dup | ENSP00000410304.2:n.4370+5036_4370+5041dup | |
| ENST00000437009.5:c.5162_5167dup | ENSP00000412628.2:p.Pro1722_Pro1723insLeuPro | |
| ENST00000448885.5:c.*3330_*3335dup | ENSP00000412320.1:n.*3330_*3335dup | |
| ENST00000463095.2:n.2388_2393dup | ||
| ENST00000495484.5:c.462-4344_462-4339dup | ENSP00000480780.1:n.462-4344_462-4339dup | |
| ENST00000612394.4:c.4406+5036_4406+5041dup | ENSP00000482921.1:n.4406+5036_4406+5041dup | |
| ENST00000613657.4:c.4409+2779_4409+2784dup | ENSP00000482794.1:n.4409+2779_4409+2784dup | |
| ENST00000614895.4:c.4385+5036_4385+5041dup | ENSP00000478512.1:n.4385+5036_4385+5041dup | |
| ENST00000616114.4:c.4367+5036_4367+5041dup | ENSP00000483745.1:n.4367+5036_4367+5041dup | |
| ENST00000617051.4:c.5396_5401dup | ENSP00000484703.1:p.Pro1800_Pro1801insLeuPro | |
| ENST00000617271.4:c.4373+2779_4373+2784dup | ENSP00000478076.1:n.4373+2779_4373+2784dup | |
| ENST00000618301.4:c.594-4344_594-4339dup | ENSP00000482780.1:n.594-4344_594-4339dup | |
| ENST00000621708.4:c.4388+2779_4388+2784dup | ENSP00000484454.1:n.4388+2779_4388+2784dup | |
| ENST00000622048.4:c.5168_5173dup | ENSP00000482329.1:p.Pro1724_Pro1725insLeuPro | |
| NM_001142763.1:c.5390_5395dup | NP_001136235.1:p.Pro1798_Pro1799insLeuPro | |
| NM_001142764.1:c.5375_5380dup | NP_001136236.1:p.Pro1793_Pro1794insLeuPro | |
| NM_001142765.1:c.5162_5167dup | NP_001136237.1:p.Pro1722_Pro1723insLeuPro | |
| NM_001142766.1:c.5360_5365dup | NP_001136238.1:p.Pro1788_Pro1789insLeuPro | |
| NM_001142767.1:c.5249_5254dup | NP_001136239.1:p.Pro1751_Pro1752insLeuPro | |
| NM_001142768.1:c.5309_5314dup | NP_001136240.1:p.Pro1771_Pro1772insLeuPro | |
| NM_001142769.1:c.4409+2779_4409+2784dup | NP_001136241.1:n.4409+2779_4409+2784dup | |
| NM_001142770.1:c.4373+2779_4373+2784dup | NP_001136242.1:n.4373+2779_4373+2784dup | |
| NM_001142771.1:c.4388+2779_4388+2784dup | NP_001136243.1:n.4388+2779_4388+2784dup | |
| NM_001142772.1:c.4373+2779_4373+2784dup | NP_001136244.1:n.4373+2779_4373+2784dup | |
| NM_001142773.1:c.5300_5305dup | NP_001136245.1:p.Pro1768_Pro1769insLeuPro | |
| NM_033056.3:c.5369_5374dup | NP_149045.3:p.Pro1791_Pro1792insLeuPro | |
| NM_001142769.2:c.4409+2779_4409+2784dup | NP_001136241.1:n.4409+2779_4409+2784dup | |
| NM_001142770.2:c.4373+2779_4373+2784dup | NP_001136242.1:n.4373+2779_4373+2784dup | |
| NM_001354404.1:c.5303_5308dup | NP_001341333.1:p.Pro1769_Pro1770insLeuPro | |
| NM_001354411.1:c.4388+5036_4388+5041dup | NP_001341340.1:n.4388+5036_4388+5041dup | |
| NM_001354420.1:c.4367+5036_4367+5041dup | NP_001341349.1:n.4367+5036_4367+5041dup | |
| NM_001354429.1:c.4368-4344_4368-4339dup | NP_001341358.1:n.4368-4344_4368-4339dup | |
| XM_017016573.2:c.4388+2779_4388+2784dup | XP_016872062.1:n.4388+2779_4388+2784dup | |
| XR_001747192.2:n.6382_6387dup | ||
| XR_001747193.2:n.6373_6378dup | ||
| NM_001142763.2:c.5390_5395dup | NP_001136235.1:p.Pro1798_Pro1799insLeuPro | |
| NM_001142764.2:c.5375_5380dup | NP_001136236.1:p.Pro1793_Pro1794insLeuPro | |
| NM_001142765.2:c.5162_5167dup | NP_001136237.1:p.Pro1722_Pro1723insLeuPro | |
| NM_001142766.2:c.5360_5365dup | NP_001136238.1:p.Pro1788_Pro1789insLeuPro | |
| NM_001142768.2:c.5309_5314dup | NP_001136240.1:p.Pro1771_Pro1772insLeuPro | |
| NM_001142769.3:c.4409+2779_4409+2784dup | NP_001136241.1:n.4409+2779_4409+2784dup | |
| NM_001142770.3:c.4373+2779_4373+2784dup | NP_001136242.1:n.4373+2779_4373+2784dup | |
| NM_001142771.2:c.4388+2779_4388+2784dup | NP_001136243.1:n.4388+2779_4388+2784dup | |
| NM_001142772.2:c.4373+2779_4373+2784dup | NP_001136244.1:n.4373+2779_4373+2784dup | |
| NM_001142773.2:c.5300_5305dup | NP_001136245.1:p.Pro1768_Pro1769insLeuPro | |
| NM_001354411.2:c.4388+5036_4388+5041dup | NP_001341340.1:n.4388+5036_4388+5041dup | |
| NM_001354420.2:c.4367+5036_4367+5041dup | NP_001341349.1:n.4367+5036_4367+5041dup | |
| NM_001354429.2:c.4368-4344_4368-4339dup | NP_001341358.1:n.4368-4344_4368-4339dup | |
| NM_033056.4:c.5369_5374dup MANE Plus Clinical | NP_149045.3:p.Pro1791_Pro1792insLeuPro | |
| NM_001142767.2:c.5249_5254dup | NP_001136239.1:p.Pro1751_Pro1752insLeuPro | |
| NM_001354404.2:c.5303_5308dup | NP_001341333.1:p.Pro1769_Pro1770insLeuPro | |
| NM_001384140.1:c.4368-2127_4368-2122dup MANE Select | NP_001371069.1:n.4368-2127_4368-2122dup |