Linked Data
dbSNP Id:
rs952811979
gnomAD v2:
9-134398790-ACC-A
gnomAD v3:
9-131523403-ACC-A
gnomAD v4:
9-131523403-ACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523405_131523406del , CM000671.2:g.131523405_131523406del | GRCh38 |
| NC_000009.11:g.134398792_134398793del , CM000671.1:g.134398792_134398793del | GRCh37 |
| NC_000009.10:g.133388613_133388614del | NCBI36 |
| NG_008896.1:g.25504_25505del | |
| NG_008896.2:g.25504_25505del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.*299_*300del | ENSP00000343034.7:n.*299_*300del | |
| ENST00000404875.7:n.3017_3018del | ||
| ENST00000677295.2:c.*2821_*2822del | ENSP00000504346.2:n.*2821_*2822del | |
| ENST00000678264.2:c.*2660_*2661del | ENSP00000503157.2:n.*2660_*2661del | |
| ENST00000682070.1:n.2787_2788del | ||
| ENST00000682639.1:c.240-58_240-57del | ||
| ENST00000682813.1:n.2874_2875del | ||
| ENST00000683231.1:c.327_328del | ||
| ENST00000683392.1:n.5069_5070del | ||
| ENST00000683900.1:n.4377_4378del | ||
| ENST00000684062.1:n.3143_3144del | ||
| ENST00000684399.1:c.292_293del | ||
| ENST00000684579.1:n.4323_4324del | ||
| ENST00000341012.12:c.*299_*300del | ENSP00000343034.7:n.*299_*300del | |
| ENST00000372220.5:c.*299_*300del | ENSP00000361294.5:n.*299_*300del | |
| ENST00000372228.9:c.*299_*300del | ENSP00000361302.3:n.*299_*300del | |
| ENST00000402686.8:c.*299_*300del MANE Select | ENSP00000385797.4:n.*299_*300del | |
| ENST00000676640.1:c.*299_*300del | ENSP00000503281.1:n.*299_*300del | |
| ENST00000676803.1:c.*299_*300del | ENSP00000503093.1:n.*299_*300del | |
| ENST00000676835.1:c.*1692_*1693del | ENSP00000502911.1:n.*1692_*1693del | |
| ENST00000677099.1:c.*2187_*2188del | ENSP00000504553.1:n.*2187_*2188del | |
| ENST00000677216.1:c.*299_*300del | ENSP00000503772.1:n.*299_*300del | |
| ENST00000677295.1:c.*1699_*1700del | ENSP00000504346.1:n.*1699_*1700del | |
| ENST00000677444.1:c.2422_2423del | ||
| ENST00000677626.1:c.*299_*300del | ENSP00000503552.1:n.*299_*300del | |
| ENST00000677853.1:c.*1485_*1486del | ENSP00000503488.1:n.*1485_*1486del | |
| ENST00000678303.1:c.*299_*300del | ENSP00000503696.1:n.*299_*300del | |
| ENST00000678366.1:c.*2726_*2727del | ENSP00000504353.1:n.*2726_*2727del | |
| ENST00000678546.1:c.*2422_*2423del | ENSP00000503062.1:n.*2422_*2423del | |
| ENST00000678548.1:c.*2616_*2617del | ENSP00000503934.1:n.*2616_*2617del | |
| ENST00000678626.1:n.2313_2314del | ||
| ENST00000678739.1:c.*2643_*2644del | ENSP00000503806.1:n.*2643_*2644del | |
| ENST00000678833.1:c.*2229_*2230del | ENSP00000503893.1:n.*2229_*2230del | |
| ENST00000679023.1:c.*123_*124del | ENSP00000503718.1:n.*123_*124del | |
| ENST00000679076.1:c.2096_2097del | ||
| ENST00000679111.1:c.*1233_*1234del | ENSP00000504257.1:n.*1233_*1234del | |
| ENST00000341012.11:c.*299_*300del | ENSP00000343034.7:n.*299_*300del | |
| ENST00000372220.4:c.1340_1341del | ENSP00000361294.4:n.1340_1341del | |
| ENST00000372228.7:c.*299_*300del | ENSP00000361302.3:n.*299_*300del | |
| ENST00000402686.7:c.*299_*300del | ENSP00000385797.3:n.*299_*300del | |
| ENST00000404875.6:c.*299_*300del | ENSP00000384531.2:n.*299_*300del | |
| ENST00000423007.5:c.*299_*300del | ENSP00000404119.1:n.*299_*300del | |
| ENST00000485278.5:n.3027_3028del | ||
| NM_001077365.1:c.*299_*300del | NP_001070833.1:n.*299_*300del | |
| NM_001077366.1:c.*299_*300del | NP_001070834.1:n.*299_*300del | |
| NM_001136113.1:c.*299_*300del | NP_001129585.1:n.*299_*300del | |
| NM_001136114.1:c.*299_*300del | NP_001129586.1:n.*299_*300del | |
| NM_007171.3:c.*299_*300del | NP_009102.3:n.*299_*300del | |
| XM_005272156.1:c.*299_*300del | XP_005272213.1:n.*299_*300del | |
| XM_005272158.1:c.*299_*300del | XP_005272215.1:n.*299_*300del | |
| XM_005272159.1:c.*299_*300del | XP_005272216.1:n.*299_*300del | |
| XM_005272162.1:c.*299_*300del | XP_005272219.1:n.*299_*300del | |
| XM_006716932.1:c.*299_*300del | XP_006716995.1:n.*299_*300del | |
| XM_011518140.1:c.*299_*300del | XP_011516442.1:n.*299_*300del | |
| XM_011518141.1:c.*299_*300del | XP_011516443.1:n.*299_*300del | |
| XM_011518142.1:c.*299_*300del | XP_011516444.1:n.*299_*300del | |
| XM_011518143.1:c.*299_*300del | XP_011516445.1:n.*299_*300del | |
| XM_011518145.1:c.*299_*300del | XP_011516447.1:n.*299_*300del | |
| XM_011518147.1:c.*299_*300del | XP_011516449.1:n.*299_*300del | |
| XR_929703.1:n.2543_2544del | ||
| NM_001353193.1:c.*299_*300del | NP_001340122.1:n.*299_*300del | |
| NM_001353194.1:c.*299_*300del | NP_001340123.1:n.*299_*300del | |
| NM_001353195.1:c.*299_*300del | NP_001340124.1:n.*299_*300del | |
| NM_001353196.1:c.*299_*300del | NP_001340125.1:n.*299_*300del | |
| NM_001353197.1:c.*299_*300del | NP_001340126.1:n.*299_*300del | |
| NM_001353198.1:c.*299_*300del | NP_001340127.1:n.*299_*300del | |
| NM_001353199.1:c.*299_*300del | NP_001340128.1:n.*299_*300del | |
| NM_001353200.1:c.*299_*300del | NP_001340129.1:n.*299_*300del | |
| NR_148391.1:n.2351_2352del | ||
| NR_148392.1:n.2569_2570del | ||
| NR_148393.1:n.2666_2667del | ||
| NR_148394.1:n.2420_2421del | ||
| NR_148395.1:n.2818_2819del | ||
| NR_148396.1:n.2452_2453del | ||
| NR_148397.1:n.2577_2578del | ||
| NR_148398.1:n.2532_2533del | ||
| NR_148399.1:n.2882_2883del | ||
| NR_148400.1:n.2657_2658del | ||
| XM_005272162.3:c.*299_*300del | XP_005272219.1:n.*299_*300del | |
| XM_006716932.2:c.*299_*300del | XP_006716995.1:n.*299_*300del | |
| XM_011518140.2:c.*299_*300del | XP_011516442.1:n.*299_*300del | |
| XM_011518141.2:c.*299_*300del | XP_011516443.1:n.*299_*300del | |
| XM_011518142.2:c.*299_*300del | XP_011516444.1:n.*299_*300del | |
| XM_011518143.2:c.*299_*300del | XP_011516445.1:n.*299_*300del | |
| XM_011518145.2:c.*299_*300del | XP_011516447.1:n.*299_*300del | |
| XM_017014205.2:c.*299_*300del | XP_016869694.1:n.*299_*300del | |
| XM_024447380.1:c.*299_*300del | XP_024303148.1:n.*299_*300del | |
| XM_024447381.1:c.*299_*300del | XP_024303149.1:n.*299_*300del | |
| XM_024447382.1:c.*299_*300del | XP_024303150.1:n.*299_*300del | |
| XR_001746160.2:n.2471_2472del | ||
| XR_001746162.2:n.2852_2853del | ||
| XR_001746164.1:n.2569_2570del | ||
| XR_001746166.2:n.2688_2689del | ||
| NM_001077365.2:c.*299_*300del MANE Select | NP_001070833.1:n.*299_*300del | |
| NM_001077366.2:c.*299_*300del | NP_001070834.1:n.*299_*300del | |
| NM_001136113.2:c.*299_*300del | NP_001129585.1:n.*299_*300del | |
| NM_001136114.2:c.*299_*300del | NP_001129586.1:n.*299_*300del | |
| NM_001353193.2:c.*299_*300del | NP_001340122.2:n.*299_*300del | |
| NM_001353194.2:c.*299_*300del | NP_001340123.1:n.*299_*300del | |
| NM_001353195.2:c.*299_*300del | NP_001340124.1:n.*299_*300del | |
| NM_001353196.2:c.*299_*300del | NP_001340125.1:n.*299_*300del | |
| NM_001353197.2:c.*299_*300del | NP_001340126.2:n.*299_*300del | |
| NM_001353198.2:c.*299_*300del | NP_001340127.2:n.*299_*300del | |
| NM_001353199.2:c.*299_*300del | NP_001340128.2:n.*299_*300del | |
| NM_001353200.2:c.*299_*300del | NP_001340129.1:n.*299_*300del | |
| NM_001374689.1:c.*299_*300del | NP_001361618.1:n.*299_*300del | |
| NM_001374690.1:c.*299_*300del | NP_001361619.1:n.*299_*300del | |
| NM_001374691.1:c.*299_*300del | NP_001361620.1:n.*299_*300del | |
| NM_001374692.1:c.*299_*300del | NP_001361621.1:n.*299_*300del | |
| NM_001374693.1:c.*299_*300del | NP_001361622.1:n.*299_*300del | |
| NM_001374695.1:c.*299_*300del | NP_001361624.1:n.*299_*300del | |
| NM_007171.4:c.*299_*300del | NP_009102.4:n.*299_*300del | |
| NR_148391.2:n.2335_2336del | ||
| NR_148392.2:n.2553_2554del | ||
| NR_148393.2:n.2650_2651del | ||
| NR_148394.2:n.2404_2405del | ||
| NR_148395.2:n.2802_2803del | ||
| NR_148396.2:n.2436_2437del | ||
| NR_148397.2:n.2561_2562del | ||
| NR_148398.2:n.2516_2517del | ||
| NR_148399.2:n.2866_2867del | ||
| NR_148400.2:n.2641_2642del |