Linked Data
dbSNP Id:
rs1169005186
gnomAD v2:
10-55583004-CTTGTGAGCCTCAATAGT-C
gnomAD v4:
10-53823244-CTTGTGAGCCTCAATAGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53823245_53823261del , CM000672.2:g.53823245_53823261del | GRCh38 |
| NC_000010.10:g.55583005_55583021del , CM000672.1:g.55583005_55583021del | GRCh37 |
| NC_000010.9:g.55253011_55253027del | NCBI36 |
| NG_009191.2:g.983031_983047del | |
| NG_009191.3:g.1810922_1810938del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+1875_4409+1891del | ENSP00000482794.1:n.4409+1875_4409+1891del | |
| ENST00000320301.11:c.4465_4481del MANE Plus Clinical | ENSP00000322604.6:p.Thr1489ValfsTer9 | |
| ENST00000395445.6:c.4388+4132_4388+4148del | ENSP00000378832.2:n.4388+4132_4388+4148del | |
| ENST00000613657.5:c.4409+1875_4409+1891del | ENSP00000482794.1:n.4409+1875_4409+1891del | |
| ENST00000642496.1:c.3227-3031_3227-3015del | ||
| ENST00000644397.2:c.4368-3031_4368-3015del MANE Select | ENSP00000495195.1:n.4368-3031_4368-3015del | |
| ENST00000320301.10:c.4465_4481del | ENSP00000322604.6:p.Thr1489ValfsTer9 | |
| ENST00000361849.7:c.4471_4487del | ENSP00000354950.3:p.Thr1491ValfsTer9 | |
| ENST00000373956.7:c.*2420_*2436del | ENSP00000363067.4:n.*2420_*2436del | |
| ENST00000373957.7:c.4486_4502del | ENSP00000363068.4:p.Thr1496ValfsTer9 | |
| ENST00000373965.6:c.4373+1875_4373+1891del | ENSP00000363076.3:n.4373+1875_4373+1891del | |
| ENST00000395430.5:c.4456_4472del | ENSP00000378818.1:p.Thr1486ValfsTer9 | |
| ENST00000395432.6:c.4345_4361del | ENSP00000378820.2:p.Thr1449ValfsTer9 | |
| ENST00000395433.5:c.4396_4412del | ENSP00000378821.1:p.Thr1466ValfsTer9 | |
| ENST00000395438.5:c.4371+4131_4371+4147del | ENSP00000378826.2:n.4371+4131_4371+4147del | |
| ENST00000395440.5:c.1306-13715_1306-13699del | ENSP00000378827.1:n.1306-13715_1306-13699del | |
| ENST00000395442.5:c.1099-13715_1099-13699del | ENSP00000378829.1:n.1099-13715_1099-13699del | |
| ENST00000395445.5:c.4388+4132_4388+4148del | ENSP00000378832.2:n.4388+4132_4388+4148del | |
| ENST00000395446.5:c.2092-13715_2092-13699del | ENSP00000378833.1:n.2092-13715_2092-13699del | |
| ENST00000409834.5:c.3206+1875_3206+1891del | ENSP00000386693.1:n.3206+1875_3206+1891del | |
| ENST00000414367.5:c.*447+4132_*447+4148del | ENSP00000412531.1:n.*447+4132_*447+4148del | |
| ENST00000414778.5:c.4370+4132_4370+4148del | ENSP00000410304.2:n.4370+4132_4370+4148del | |
| ENST00000437009.5:c.4258_4274del | ENSP00000412628.2:p.Thr1420ValfsTer9 | |
| ENST00000448885.5:c.*2426_*2442del | ENSP00000412320.1:n.*2426_*2442del | |
| ENST00000463095.2:n.1484_1500del | ||
| ENST00000495484.5:c.462-5248_462-5232del | ENSP00000480780.1:n.462-5248_462-5232del | |
| ENST00000612394.4:c.4406+4132_4406+4148del | ENSP00000482921.1:n.4406+4132_4406+4148del | |
| ENST00000613657.4:c.4409+1875_4409+1891del | ENSP00000482794.1:n.4409+1875_4409+1891del | |
| ENST00000614895.4:c.4385+4132_4385+4148del | ENSP00000478512.1:n.4385+4132_4385+4148del | |
| ENST00000616114.4:c.4367+4132_4367+4148del | ENSP00000483745.1:n.4367+4132_4367+4148del | |
| ENST00000617051.4:c.4492_4508del | ENSP00000484703.1:p.Thr1498ValfsTer9 | |
| ENST00000617271.4:c.4373+1875_4373+1891del | ENSP00000478076.1:n.4373+1875_4373+1891del | |
| ENST00000618301.4:c.593+4132_593+4148del | ENSP00000482780.1:n.593+4132_593+4148del | |
| ENST00000621708.4:c.4388+1875_4388+1891del | ENSP00000484454.1:n.4388+1875_4388+1891del | |
| ENST00000622048.4:c.4264_4280del | ENSP00000482329.1:p.Thr1422ValfsTer9 | |
| NM_001142763.1:c.4486_4502del | NP_001136235.1:p.Thr1496ValfsTer9 | |
| NM_001142764.1:c.4471_4487del | NP_001136236.1:p.Thr1491ValfsTer9 | |
| NM_001142765.1:c.4258_4274del | NP_001136237.1:p.Thr1420ValfsTer9 | |
| NM_001142766.1:c.4456_4472del | NP_001136238.1:p.Thr1486ValfsTer9 | |
| NM_001142767.1:c.4345_4361del | NP_001136239.1:p.Thr1449ValfsTer9 | |
| NM_001142768.1:c.4405_4421del | NP_001136240.1:p.Thr1469ValfsTer9 | |
| NM_001142769.1:c.4409+1875_4409+1891del | NP_001136241.1:n.4409+1875_4409+1891del | |
| NM_001142770.1:c.4373+1875_4373+1891del | NP_001136242.1:n.4373+1875_4373+1891del | |
| NM_001142771.1:c.4388+1875_4388+1891del | NP_001136243.1:n.4388+1875_4388+1891del | |
| NM_001142772.1:c.4373+1875_4373+1891del | NP_001136244.1:n.4373+1875_4373+1891del | |
| NM_001142773.1:c.4396_4412del | NP_001136245.1:p.Thr1466ValfsTer9 | |
| NM_033056.3:c.4465_4481del | NP_149045.3:p.Thr1489ValfsTer9 | |
| NM_001142769.2:c.4409+1875_4409+1891del | NP_001136241.1:n.4409+1875_4409+1891del | |
| NM_001142770.2:c.4373+1875_4373+1891del | NP_001136242.1:n.4373+1875_4373+1891del | |
| NM_001354404.1:c.4399_4415del | NP_001341333.1:p.Thr1467ValfsTer9 | |
| NM_001354411.1:c.4388+4132_4388+4148del | NP_001341340.1:n.4388+4132_4388+4148del | |
| NM_001354420.1:c.4367+4132_4367+4148del | NP_001341349.1:n.4367+4132_4367+4148del | |
| NM_001354429.1:c.4367+4132_4367+4148del | NP_001341358.1:n.4367+4132_4367+4148del | |
| XM_017016573.2:c.4388+1875_4388+1891del | XP_016872062.1:n.4388+1875_4388+1891del | |
| XR_001747192.2:n.5478_5494del | ||
| XR_001747193.2:n.5469_5485del | ||
| NM_001142763.2:c.4486_4502del | NP_001136235.1:p.Thr1496ValfsTer9 | |
| NM_001142764.2:c.4471_4487del | NP_001136236.1:p.Thr1491ValfsTer9 | |
| NM_001142765.2:c.4258_4274del | NP_001136237.1:p.Thr1420ValfsTer9 | |
| NM_001142766.2:c.4456_4472del | NP_001136238.1:p.Thr1486ValfsTer9 | |
| NM_001142768.2:c.4405_4421del | NP_001136240.1:p.Thr1469ValfsTer9 | |
| NM_001142769.3:c.4409+1875_4409+1891del | NP_001136241.1:n.4409+1875_4409+1891del | |
| NM_001142770.3:c.4373+1875_4373+1891del | NP_001136242.1:n.4373+1875_4373+1891del | |
| NM_001142771.2:c.4388+1875_4388+1891del | NP_001136243.1:n.4388+1875_4388+1891del | |
| NM_001142772.2:c.4373+1875_4373+1891del | NP_001136244.1:n.4373+1875_4373+1891del | |
| NM_001142773.2:c.4396_4412del | NP_001136245.1:p.Thr1466ValfsTer9 | |
| NM_001354411.2:c.4388+4132_4388+4148del | NP_001341340.1:n.4388+4132_4388+4148del | |
| NM_001354420.2:c.4367+4132_4367+4148del | NP_001341349.1:n.4367+4132_4367+4148del | |
| NM_001354429.2:c.4367+4132_4367+4148del | NP_001341358.1:n.4367+4132_4367+4148del | |
| NM_033056.4:c.4465_4481del MANE Plus Clinical | NP_149045.3:p.Thr1489ValfsTer9 | |
| NM_001142767.2:c.4345_4361del | NP_001136239.1:p.Thr1449ValfsTer9 | |
| NM_001354404.2:c.4399_4415del | NP_001341333.1:p.Thr1467ValfsTer9 | |
| NM_001384140.1:c.4368-3031_4368-3015del MANE Select | NP_001371069.1:n.4368-3031_4368-3015del |