Linked Data
ClinVar Variation Id:
553697
ClinVar RCV Id:
RCV000669205
dbSNP Id:
rs1418472770
gnomAD v3:
10-53822102-G-GGGTCT
gnomAD v4:
10-53822102-G-GGGTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822104_53822108dup , CM000672.2:g.53822104_53822108dup | GRCh38 |
| NC_000010.10:g.55581864_55581868dup , CM000672.1:g.55581864_55581868dup | GRCh37 |
| NC_000010.9:g.55251870_55251874dup | NCBI36 |
| NG_009191.2:g.984185_984189dup | |
| NG_009191.3:g.1812076_1812080dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+3029_4409+3033dup | ENSP00000482794.1:n.4409+3029_4409+3033dup | |
| ENST00000320301.11:c.5619_5623dup MANE Plus Clinical | ENSP00000322604.6:p.Pro1875GlnfsTer17 | |
| ENST00000395445.6:c.4388+5286_4388+5290dup | ENSP00000378832.2:n.4388+5286_4388+5290dup | |
| ENST00000613657.5:c.4409+3029_4409+3033dup | ENSP00000482794.1:n.4409+3029_4409+3033dup | |
| ENST00000642496.1:c.3227-1877_3227-1873dup | ||
| ENST00000644397.2:c.4368-1877_4368-1873dup MANE Select | ENSP00000495195.1:n.4368-1877_4368-1873dup | |
| ENST00000320301.10:c.5619_5623dup | ENSP00000322604.6:p.Pro1875GlnfsTer17 | |
| ENST00000361849.7:c.5625_5629dup | ENSP00000354950.3:p.Pro1877GlnfsTer17 | |
| ENST00000373956.7:c.*3574_*3578dup | ENSP00000363067.4:n.*3574_*3578dup | |
| ENST00000373957.7:c.5640_5644dup | ENSP00000363068.4:p.Pro1882GlnfsTer17 | |
| ENST00000373965.6:c.4373+3029_4373+3033dup | ENSP00000363076.3:n.4373+3029_4373+3033dup | |
| ENST00000395430.5:c.5610_5614dup | ENSP00000378818.1:p.Pro1872GlnfsTer17 | |
| ENST00000395432.6:c.5499_5503dup | ENSP00000378820.2:p.Pro1835GlnfsTer17 | |
| ENST00000395433.5:c.5550_5554dup | ENSP00000378821.1:p.Pro1852GlnfsTer17 | |
| ENST00000395438.5:c.4371+5285_4371+5289dup | ENSP00000378826.2:n.4371+5285_4371+5289dup | |
| ENST00000395440.5:c.1306-12561_1306-12557dup | ENSP00000378827.1:n.1306-12561_1306-12557dup | |
| ENST00000395442.5:c.1099-12561_1099-12557dup | ENSP00000378829.1:n.1099-12561_1099-12557dup | |
| ENST00000395445.5:c.4388+5286_4388+5290dup | ENSP00000378832.2:n.4388+5286_4388+5290dup | |
| ENST00000395446.5:c.2092-12561_2092-12557dup | ENSP00000378833.1:n.2092-12561_2092-12557dup | |
| ENST00000409834.5:c.3206+3029_3206+3033dup | ENSP00000386693.1:n.3206+3029_3206+3033dup | |
| ENST00000414367.5:c.*447+5286_*447+5290dup | ENSP00000412531.1:n.*447+5286_*447+5290dup | |
| ENST00000414778.5:c.4370+5286_4370+5290dup | ENSP00000410304.2:n.4370+5286_4370+5290dup | |
| ENST00000437009.5:c.5412_5416dup | ENSP00000412628.2:p.Pro1806GlnfsTer17 | |
| ENST00000448885.5:c.*3580_*3584dup | ENSP00000412320.1:n.*3580_*3584dup | |
| ENST00000463095.2:n.2638_2642dup | ||
| ENST00000495484.5:c.462-4094_462-4090dup | ENSP00000480780.1:n.462-4094_462-4090dup | |
| ENST00000612394.4:c.4406+5286_4406+5290dup | ENSP00000482921.1:n.4406+5286_4406+5290dup | |
| ENST00000613657.4:c.4409+3029_4409+3033dup | ENSP00000482794.1:n.4409+3029_4409+3033dup | |
| ENST00000614895.4:c.4385+5286_4385+5290dup | ENSP00000478512.1:n.4385+5286_4385+5290dup | |
| ENST00000616114.4:c.4367+5286_4367+5290dup | ENSP00000483745.1:n.4367+5286_4367+5290dup | |
| ENST00000617051.4:c.5646_5650dup | ENSP00000484703.1:p.Pro1884GlnfsTer17 | |
| ENST00000617271.4:c.4373+3029_4373+3033dup | ENSP00000478076.1:n.4373+3029_4373+3033dup | |
| ENST00000618301.4:c.594-4094_594-4090dup | ENSP00000482780.1:n.594-4094_594-4090dup | |
| ENST00000621708.4:c.4388+3029_4388+3033dup | ENSP00000484454.1:n.4388+3029_4388+3033dup | |
| ENST00000622048.4:c.5418_5422dup | ENSP00000482329.1:p.Pro1808GlnfsTer17 | |
| NM_001142763.1:c.5640_5644dup | NP_001136235.1:p.Pro1882GlnfsTer17 | |
| NM_001142764.1:c.5625_5629dup | NP_001136236.1:p.Pro1877GlnfsTer17 | |
| NM_001142765.1:c.5412_5416dup | NP_001136237.1:p.Pro1806GlnfsTer17 | |
| NM_001142766.1:c.5610_5614dup | NP_001136238.1:p.Pro1872GlnfsTer17 | |
| NM_001142767.1:c.5499_5503dup | NP_001136239.1:p.Pro1835GlnfsTer17 | |
| NM_001142768.1:c.5559_5563dup | NP_001136240.1:p.Pro1855GlnfsTer17 | |
| NM_001142769.1:c.4409+3029_4409+3033dup | NP_001136241.1:n.4409+3029_4409+3033dup | |
| NM_001142770.1:c.4373+3029_4373+3033dup | NP_001136242.1:n.4373+3029_4373+3033dup | |
| NM_001142771.1:c.4388+3029_4388+3033dup | NP_001136243.1:n.4388+3029_4388+3033dup | |
| NM_001142772.1:c.4373+3029_4373+3033dup | NP_001136244.1:n.4373+3029_4373+3033dup | |
| NM_001142773.1:c.5550_5554dup | NP_001136245.1:p.Pro1852GlnfsTer17 | |
| NM_033056.3:c.5619_5623dup | NP_149045.3:p.Pro1875GlnfsTer17 | |
| NM_001142769.2:c.4409+3029_4409+3033dup | NP_001136241.1:n.4409+3029_4409+3033dup | |
| NM_001142770.2:c.4373+3029_4373+3033dup | NP_001136242.1:n.4373+3029_4373+3033dup | |
| NM_001354404.1:c.5553_5557dup | NP_001341333.1:p.Pro1853GlnfsTer17 | |
| NM_001354411.1:c.4388+5286_4388+5290dup | NP_001341340.1:n.4388+5286_4388+5290dup | |
| NM_001354420.1:c.4367+5286_4367+5290dup | NP_001341349.1:n.4367+5286_4367+5290dup | |
| NM_001354429.1:c.4368-4094_4368-4090dup | NP_001341358.1:n.4368-4094_4368-4090dup | |
| XM_017016573.2:c.4388+3029_4388+3033dup | XP_016872062.1:n.4388+3029_4388+3033dup | |
| XR_001747192.2:n.6632_6636dup | ||
| XR_001747193.2:n.6623_6627dup | ||
| NM_001142763.2:c.5640_5644dup | NP_001136235.1:p.Pro1882GlnfsTer17 | |
| NM_001142764.2:c.5625_5629dup | NP_001136236.1:p.Pro1877GlnfsTer17 | |
| NM_001142765.2:c.5412_5416dup | NP_001136237.1:p.Pro1806GlnfsTer17 | |
| NM_001142766.2:c.5610_5614dup | NP_001136238.1:p.Pro1872GlnfsTer17 | |
| NM_001142768.2:c.5559_5563dup | NP_001136240.1:p.Pro1855GlnfsTer17 | |
| NM_001142769.3:c.4409+3029_4409+3033dup | NP_001136241.1:n.4409+3029_4409+3033dup | |
| NM_001142770.3:c.4373+3029_4373+3033dup | NP_001136242.1:n.4373+3029_4373+3033dup | |
| NM_001142771.2:c.4388+3029_4388+3033dup | NP_001136243.1:n.4388+3029_4388+3033dup | |
| NM_001142772.2:c.4373+3029_4373+3033dup | NP_001136244.1:n.4373+3029_4373+3033dup | |
| NM_001142773.2:c.5550_5554dup | NP_001136245.1:p.Pro1852GlnfsTer17 | |
| NM_001354411.2:c.4388+5286_4388+5290dup | NP_001341340.1:n.4388+5286_4388+5290dup | |
| NM_001354420.2:c.4367+5286_4367+5290dup | NP_001341349.1:n.4367+5286_4367+5290dup | |
| NM_001354429.2:c.4368-4094_4368-4090dup | NP_001341358.1:n.4368-4094_4368-4090dup | |
| NM_033056.4:c.5619_5623dup MANE Plus Clinical | NP_149045.3:p.Pro1875GlnfsTer17 | |
| NM_001142767.2:c.5499_5503dup | NP_001136239.1:p.Pro1835GlnfsTer17 | |
| NM_001354404.2:c.5553_5557dup | NP_001341333.1:p.Pro1853GlnfsTer17 | |
| NM_001384140.1:c.4368-1877_4368-1873dup MANE Select | NP_001371069.1:n.4368-1877_4368-1873dup |