Linked Data
dbSNP Id:
rs113363047
ExAC:
10:55581882 CGTT / C
gnomAD v2:
10-55581882-CGTT-C
gnomAD v3:
10-53822122-CGTT-C
gnomAD v4:
10-53822122-CGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822127_53822129del , CM000672.2:g.53822127_53822129del | GRCh38 |
| NC_000010.10:g.55581887_55581889del , CM000672.1:g.55581887_55581889del | GRCh37 |
| NC_000010.9:g.55251893_55251895del | NCBI36 |
| NG_009191.2:g.984167_984169del | |
| NG_009191.3:g.1812058_1812060del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4409+3011_4409+3013del | ENSP00000482794.1:n.4409+3011_4409+3013de... | |
| ENST00000320301.11:c.5601_5603del MANE Plus Clinical | ENSP00000322604.6:p.Thr1868del | |
| ENST00000395445.6:c.4388+5268_4388+5270del | ENSP00000378832.2:n.4388+5268_4388+5270de... | |
| ENST00000613657.5:c.4409+3011_4409+3013del | ENSP00000482794.1:n.4409+3011_4409+3013de... | |
| ENST00000642496.1:c.3227-1895_3227-1893del | ||
| ENST00000644397.2:c.4368-1895_4368-1893del MANE Select | ENSP00000495195.1:n.4368-1895_4368-1893de... | |
| ENST00000320301.10:c.5601_5603del | ENSP00000322604.6:p.Thr1868del | |
| ENST00000361849.7:c.5607_5609del | ENSP00000354950.3:p.Thr1870del | |
| ENST00000373956.7:c.*3556_*3558del | ENSP00000363067.4:n.*3556_*3558del | |
| ENST00000373957.7:c.5622_5624del | ENSP00000363068.4:p.Thr1875del | |
| ENST00000373965.6:c.4373+3011_4373+3013del | ENSP00000363076.3:n.4373+3011_4373+3013de... | |
| ENST00000395430.5:c.5592_5594del | ENSP00000378818.1:p.Thr1865del | |
| ENST00000395432.6:c.5481_5483del | ENSP00000378820.2:p.Thr1828del | |
| ENST00000395433.5:c.5532_5534del | ENSP00000378821.1:p.Thr1845del | |
| ENST00000395438.5:c.4371+5267_4371+5269del | ENSP00000378826.2:n.4371+5267_4371+5269de... | |
| ENST00000395440.5:c.1306-12579_1306-12577del | ENSP00000378827.1:n.1306-12579_1306-12577... | |
| ENST00000395442.5:c.1099-12579_1099-12577del | ENSP00000378829.1:n.1099-12579_1099-12577... | |
| ENST00000395445.5:c.4388+5268_4388+5270del | ENSP00000378832.2:n.4388+5268_4388+5270de... | |
| ENST00000395446.5:c.2092-12579_2092-12577del | ENSP00000378833.1:n.2092-12579_2092-12577... | |
| ENST00000409834.5:c.3206+3011_3206+3013del | ENSP00000386693.1:n.3206+3011_3206+3013de... | |
| ENST00000414367.5:c.*447+5268_*447+5270del | ENSP00000412531.1:n.*447+5268_*447+5270de... | |
| ENST00000414778.5:c.4370+5268_4370+5270del | ENSP00000410304.2:n.4370+5268_4370+5270de... | |
| ENST00000437009.5:c.5394_5396del | ENSP00000412628.2:p.Thr1799del | |
| ENST00000448885.5:c.*3562_*3564del | ENSP00000412320.1:n.*3562_*3564del | |
| ENST00000463095.2:n.2620_2622del | ||
| ENST00000495484.5:c.462-4112_462-4110del | ENSP00000480780.1:n.462-4112_462-4110del | |
| ENST00000612394.4:c.4406+5268_4406+5270del | ENSP00000482921.1:n.4406+5268_4406+5270de... | |
| ENST00000613657.4:c.4409+3011_4409+3013del | ENSP00000482794.1:n.4409+3011_4409+3013de... | |
| ENST00000614895.4:c.4385+5268_4385+5270del | ENSP00000478512.1:n.4385+5268_4385+5270de... | |
| ENST00000616114.4:c.4367+5268_4367+5270del | ENSP00000483745.1:n.4367+5268_4367+5270de... | |
| ENST00000617051.4:c.5628_5630del | ENSP00000484703.1:p.Thr1877del | |
| ENST00000617271.4:c.4373+3011_4373+3013del | ENSP00000478076.1:n.4373+3011_4373+3013de... | |
| ENST00000618301.4:c.594-4112_594-4110del | ENSP00000482780.1:n.594-4112_594-4110del | |
| ENST00000621708.4:c.4388+3011_4388+3013del | ENSP00000484454.1:n.4388+3011_4388+3013de... | |
| ENST00000622048.4:c.5400_5402del | ENSP00000482329.1:p.Thr1801del | |
| NM_001142763.1:c.5622_5624del | NP_001136235.1:p.Thr1875del | |
| NM_001142764.1:c.5607_5609del | NP_001136236.1:p.Thr1870del | |
| NM_001142765.1:c.5394_5396del | NP_001136237.1:p.Thr1799del | |
| NM_001142766.1:c.5592_5594del | NP_001136238.1:p.Thr1865del | |
| NM_001142767.1:c.5481_5483del | NP_001136239.1:p.Thr1828del | |
| NM_001142768.1:c.5541_5543del | NP_001136240.1:p.Thr1848del | |
| NM_001142769.1:c.4409+3011_4409+3013del | NP_001136241.1:n.4409+3011_4409+3013del | |
| NM_001142770.1:c.4373+3011_4373+3013del | NP_001136242.1:n.4373+3011_4373+3013del | |
| NM_001142771.1:c.4388+3011_4388+3013del | NP_001136243.1:n.4388+3011_4388+3013del | |
| NM_001142772.1:c.4373+3011_4373+3013del | NP_001136244.1:n.4373+3011_4373+3013del | |
| NM_001142773.1:c.5532_5534del | NP_001136245.1:p.Thr1845del | |
| NM_033056.3:c.5601_5603del | NP_149045.3:p.Thr1868del | |
| NM_001142769.2:c.4409+3011_4409+3013del | NP_001136241.1:n.4409+3011_4409+3013del | |
| NM_001142770.2:c.4373+3011_4373+3013del | NP_001136242.1:n.4373+3011_4373+3013del | |
| NM_001354404.1:c.5535_5537del | NP_001341333.1:p.Thr1846del | |
| NM_001354411.1:c.4388+5268_4388+5270del | NP_001341340.1:n.4388+5268_4388+5270del | |
| NM_001354420.1:c.4367+5268_4367+5270del | NP_001341349.1:n.4367+5268_4367+5270del | |
| NM_001354429.1:c.4368-4112_4368-4110del | NP_001341358.1:n.4368-4112_4368-4110del | |
| XM_017016573.2:c.4388+3011_4388+3013del | XP_016872062.1:n.4388+3011_4388+3013del | |
| XR_001747192.2:n.6614_6616del | ||
| XR_001747193.2:n.6605_6607del | ||
| NM_001142763.2:c.5622_5624del | NP_001136235.1:p.Thr1875del | |
| NM_001142764.2:c.5607_5609del | NP_001136236.1:p.Thr1870del | |
| NM_001142765.2:c.5394_5396del | NP_001136237.1:p.Thr1799del | |
| NM_001142766.2:c.5592_5594del | NP_001136238.1:p.Thr1865del | |
| NM_001142768.2:c.5541_5543del | NP_001136240.1:p.Thr1848del | |
| NM_001142769.3:c.4409+3011_4409+3013del | NP_001136241.1:n.4409+3011_4409+3013del | |
| NM_001142770.3:c.4373+3011_4373+3013del | NP_001136242.1:n.4373+3011_4373+3013del | |
| NM_001142771.2:c.4388+3011_4388+3013del | NP_001136243.1:n.4388+3011_4388+3013del | |
| NM_001142772.2:c.4373+3011_4373+3013del | NP_001136244.1:n.4373+3011_4373+3013del | |
| NM_001142773.2:c.5532_5534del | NP_001136245.1:p.Thr1845del | |
| NM_001354411.2:c.4388+5268_4388+5270del | NP_001341340.1:n.4388+5268_4388+5270del | |
| NM_001354420.2:c.4367+5268_4367+5270del | NP_001341349.1:n.4367+5268_4367+5270del | |
| NM_001354429.2:c.4368-4112_4368-4110del | NP_001341358.1:n.4368-4112_4368-4110del | |
| NM_033056.4:c.5601_5603del MANE Plus Clinical | NP_149045.3:p.Thr1868del | |
| NM_001142767.2:c.5481_5483del | NP_001136239.1:p.Thr1828del | |
| NM_001354404.2:c.5535_5537del | NP_001341333.1:p.Thr1846del | |
| NM_001384140.1:c.4368-1895_4368-1893del MANE Select | NP_001371069.1:n.4368-1895_4368-1893del |