Linked Data
ClinVar Variation Id:
421481
dbSNP Id:
rs373916538
gnomAD v2:
10-55582199-CAGGAGCAGG-C
gnomAD v3:
10-53822439-CAGGAGCAGG-C
gnomAD v4:
10-53822439-CAGGAGCAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822445_53822453del , CM000672.2:g.53822445_53822453del | GRCh38 |
| NC_000010.10:g.55582205_55582213del , CM000672.1:g.55582205_55582213del | GRCh37 |
| NC_000010.9:g.55252211_55252219del | NCBI36 |
| NG_009191.2:g.983844_983852del | |
| NG_009191.3:g.1811735_1811743del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2688_4409+2696del | ENSP00000482794.1:n.4409+2688_4409+2696del | |
| ENST00000320301.11:c.5278_5286del MANE Plus Clinical | ENSP00000322604.6:p.Pro1760_Pro1762del | |
| ENST00000395445.6:c.4388+4945_4388+4953del | ENSP00000378832.2:n.4388+4945_4388+4953del | |
| ENST00000613657.5:c.4409+2688_4409+2696del | ENSP00000482794.1:n.4409+2688_4409+2696del | |
| ENST00000642496.1:c.3227-2218_3227-2210del | ||
| ENST00000644397.2:c.4368-2218_4368-2210del MANE Select | ENSP00000495195.1:n.4368-2218_4368-2210del | |
| ENST00000320301.10:c.5278_5286del | ENSP00000322604.6:p.Pro1760_Pro1762del | |
| ENST00000361849.7:c.5284_5292del | ENSP00000354950.3:p.Pro1762_Pro1764del | |
| ENST00000373956.7:c.*3233_*3241del | ENSP00000363067.4:n.*3233_*3241del | |
| ENST00000373957.7:c.5299_5307del | ENSP00000363068.4:p.Pro1767_Pro1769del | |
| ENST00000373965.6:c.4373+2688_4373+2696del | ENSP00000363076.3:n.4373+2688_4373+2696del | |
| ENST00000395430.5:c.5269_5277del | ENSP00000378818.1:p.Pro1757_Pro1759del | |
| ENST00000395432.6:c.5158_5166del | ENSP00000378820.2:p.Pro1720_Pro1722del | |
| ENST00000395433.5:c.5209_5217del | ENSP00000378821.1:p.Pro1737_Pro1739del | |
| ENST00000395438.5:c.4371+4944_4371+4952del | ENSP00000378826.2:n.4371+4944_4371+4952del | |
| ENST00000395440.5:c.1306-12902_1306-12894del | ENSP00000378827.1:n.1306-12902_1306-12894del | |
| ENST00000395442.5:c.1099-12902_1099-12894del | ENSP00000378829.1:n.1099-12902_1099-12894del | |
| ENST00000395445.5:c.4388+4945_4388+4953del | ENSP00000378832.2:n.4388+4945_4388+4953del | |
| ENST00000395446.5:c.2092-12902_2092-12894del | ENSP00000378833.1:n.2092-12902_2092-12894del | |
| ENST00000409834.5:c.3206+2688_3206+2696del | ENSP00000386693.1:n.3206+2688_3206+2696del | |
| ENST00000414367.5:c.*447+4945_*447+4953del | ENSP00000412531.1:n.*447+4945_*447+4953del | |
| ENST00000414778.5:c.4370+4945_4370+4953del | ENSP00000410304.2:n.4370+4945_4370+4953del | |
| ENST00000437009.5:c.5071_5079del | ENSP00000412628.2:p.Pro1691_Pro1693del | |
| ENST00000448885.5:c.*3239_*3247del | ENSP00000412320.1:n.*3239_*3247del | |
| ENST00000463095.2:n.2297_2305del | ||
| ENST00000495484.5:c.462-4435_462-4427del | ENSP00000480780.1:n.462-4435_462-4427del | |
| ENST00000612394.4:c.4406+4945_4406+4953del | ENSP00000482921.1:n.4406+4945_4406+4953del | |
| ENST00000613657.4:c.4409+2688_4409+2696del | ENSP00000482794.1:n.4409+2688_4409+2696del | |
| ENST00000614895.4:c.4385+4945_4385+4953del | ENSP00000478512.1:n.4385+4945_4385+4953del | |
| ENST00000616114.4:c.4367+4945_4367+4953del | ENSP00000483745.1:n.4367+4945_4367+4953del | |
| ENST00000617051.4:c.5305_5313del | ENSP00000484703.1:p.Pro1769_Pro1771del | |
| ENST00000617271.4:c.4373+2688_4373+2696del | ENSP00000478076.1:n.4373+2688_4373+2696del | |
| ENST00000618301.4:c.594-4435_594-4427del | ENSP00000482780.1:n.594-4435_594-4427del | |
| ENST00000621708.4:c.4388+2688_4388+2696del | ENSP00000484454.1:n.4388+2688_4388+2696del | |
| ENST00000622048.4:c.5077_5085del | ENSP00000482329.1:p.Pro1693_Pro1695del | |
| NM_001142763.1:c.5299_5307del | NP_001136235.1:p.Pro1767_Pro1769del | |
| NM_001142764.1:c.5284_5292del | NP_001136236.1:p.Pro1762_Pro1764del | |
| NM_001142765.1:c.5071_5079del | NP_001136237.1:p.Pro1691_Pro1693del | |
| NM_001142766.1:c.5269_5277del | NP_001136238.1:p.Pro1757_Pro1759del | |
| NM_001142767.1:c.5158_5166del | NP_001136239.1:p.Pro1720_Pro1722del | |
| NM_001142768.1:c.5218_5226del | NP_001136240.1:p.Pro1740_Pro1742del | |
| NM_001142769.1:c.4409+2688_4409+2696del | NP_001136241.1:n.4409+2688_4409+2696del | |
| NM_001142770.1:c.4373+2688_4373+2696del | NP_001136242.1:n.4373+2688_4373+2696del | |
| NM_001142771.1:c.4388+2688_4388+2696del | NP_001136243.1:n.4388+2688_4388+2696del | |
| NM_001142772.1:c.4373+2688_4373+2696del | NP_001136244.1:n.4373+2688_4373+2696del | |
| NM_001142773.1:c.5209_5217del | NP_001136245.1:p.Pro1737_Pro1739del | |
| NM_033056.3:c.5278_5286del | NP_149045.3:p.Pro1760_Pro1762del | |
| NM_001142769.2:c.4409+2688_4409+2696del | NP_001136241.1:n.4409+2688_4409+2696del | |
| NM_001142770.2:c.4373+2688_4373+2696del | NP_001136242.1:n.4373+2688_4373+2696del | |
| NM_001354404.1:c.5212_5220del | NP_001341333.1:p.Pro1738_Pro1740del | |
| NM_001354411.1:c.4388+4945_4388+4953del | NP_001341340.1:n.4388+4945_4388+4953del | |
| NM_001354420.1:c.4367+4945_4367+4953del | NP_001341349.1:n.4367+4945_4367+4953del | |
| NM_001354429.1:c.4368-4435_4368-4427del | NP_001341358.1:n.4368-4435_4368-4427del | |
| XM_017016573.2:c.4388+2688_4388+2696del | XP_016872062.1:n.4388+2688_4388+2696del | |
| XR_001747192.2:n.6291_6299del | ||
| XR_001747193.2:n.6282_6290del | ||
| NM_001142763.2:c.5299_5307del | NP_001136235.1:p.Pro1767_Pro1769del | |
| NM_001142764.2:c.5284_5292del | NP_001136236.1:p.Pro1762_Pro1764del | |
| NM_001142765.2:c.5071_5079del | NP_001136237.1:p.Pro1691_Pro1693del | |
| NM_001142766.2:c.5269_5277del | NP_001136238.1:p.Pro1757_Pro1759del | |
| NM_001142768.2:c.5218_5226del | NP_001136240.1:p.Pro1740_Pro1742del | |
| NM_001142769.3:c.4409+2688_4409+2696del | NP_001136241.1:n.4409+2688_4409+2696del | |
| NM_001142770.3:c.4373+2688_4373+2696del | NP_001136242.1:n.4373+2688_4373+2696del | |
| NM_001142771.2:c.4388+2688_4388+2696del | NP_001136243.1:n.4388+2688_4388+2696del | |
| NM_001142772.2:c.4373+2688_4373+2696del | NP_001136244.1:n.4373+2688_4373+2696del | |
| NM_001142773.2:c.5209_5217del | NP_001136245.1:p.Pro1737_Pro1739del | |
| NM_001354411.2:c.4388+4945_4388+4953del | NP_001341340.1:n.4388+4945_4388+4953del | |
| NM_001354420.2:c.4367+4945_4367+4953del | NP_001341349.1:n.4367+4945_4367+4953del | |
| NM_001354429.2:c.4368-4435_4368-4427del | NP_001341358.1:n.4368-4435_4368-4427del | |
| NM_033056.4:c.5278_5286del MANE Plus Clinical | NP_149045.3:p.Pro1760_Pro1762del | |
| NM_001142767.2:c.5158_5166del | NP_001136239.1:p.Pro1720_Pro1722del | |
| NM_001354404.2:c.5212_5220del | NP_001341333.1:p.Pro1738_Pro1740del | |
| NM_001384140.1:c.4368-2218_4368-2210del MANE Select | NP_001371069.1:n.4368-2218_4368-2210del |