Linked Data
gnomAD v3:
9-131515814-CTTCCTCTAACACAGGACACT-C
gnomAD v4:
9-131515814-CTTCCTCTAACACAGGACACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515816_131515835del , CM000671.2:g.131515816_131515835del | GRCh38 |
| NC_000009.11:g.134391203_134391222del , CM000671.1:g.134391203_134391222del | GRCh37 |
| NC_000009.10:g.133381024_133381043del | NCBI36 |
| NG_008896.1:g.17915_17934del | |
| NG_008896.2:g.17915_17934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+294_1110+313del | ENSP00000343034.7:n.1110+294_1110+313del | |
| ENST00000404875.7:n.1812+294_1812+313del | ||
| ENST00000423007.6:c.1329+294_1329+313del | ENSP00000404119.2:n.1329+294_1329+313del | |
| ENST00000677295.2:c.*1616+294_*1616+313del | ENSP00000504346.2:n.*1616+294_*1616+313del | |
| ENST00000678264.2:c.*1455+294_*1455+313del | ENSP00000503157.2:n.*1455+294_*1455+313del | |
| ENST00000682070.1:n.1737+294_1737+313del | ||
| ENST00000682539.1:c.97+294_97+313del | ||
| ENST00000682813.1:n.1537+294_1537+313del | ||
| ENST00000683392.1:n.4019+294_4019+313del | ||
| ENST00000683712.1:n.1677+294_1677+313del | ||
| ENST00000683900.1:n.3172+294_3172+313del | ||
| ENST00000684062.1:n.1938+294_1938+313del | ||
| ENST00000684579.1:n.3118+294_3118+313del | ||
| ENST00000341012.12:c.1110+294_1110+313del | ENSP00000343034.7:n.1110+294_1110+313del | |
| ENST00000372220.5:c.141+294_141+313del | ENSP00000361294.5:n.141+294_141+313del | |
| ENST00000372228.9:c.1338+294_1338+313del | ENSP00000361302.3:n.1338+294_1338+313del | |
| ENST00000402686.8:c.1272+294_1272+313del MANE Select | ENSP00000385797.4:n.1272+294_1272+313del | |
| ENST00000676640.1:c.1272+294_1272+313del | ENSP00000503281.1:n.1272+294_1272+313del | |
| ENST00000676803.1:c.447+294_447+313del | ENSP00000503093.1:n.447+294_447+313del | |
| ENST00000676835.1:c.*487+294_*487+313del | ENSP00000502911.1:n.*487+294_*487+313del | |
| ENST00000677029.1:c.816+294_816+313del | ENSP00000502936.1:n.816+294_816+313del | |
| ENST00000677099.1:c.*982+294_*982+313del | ENSP00000504553.1:n.*982+294_*982+313del | |
| ENST00000677216.1:c.921+294_921+313del | ENSP00000503772.1:n.921+294_921+313del | |
| ENST00000677295.1:c.*649+294_*649+313del | ENSP00000504346.1:n.*649+294_*649+313del | |
| ENST00000677444.1:c.1078+294_1078+313del | ||
| ENST00000677586.1:n.753+294_753+313del | ||
| ENST00000677626.1:c.921+294_921+313del | ENSP00000503552.1:n.921+294_921+313del | |
| ENST00000677677.1:n.1232+294_1232+313del | ||
| ENST00000677853.1:c.*280+294_*280+313del | ENSP00000503488.1:n.*280+294_*280+313del | |
| ENST00000677944.1:c.534+294_534+313del | ||
| ENST00000678264.1:c.*649+294_*649+313del | ENSP00000503157.1:n.*649+294_*649+313del | |
| ENST00000678303.1:c.1182+294_1182+313del | ENSP00000503696.1:n.1182+294_1182+313del | |
| ENST00000678366.1:c.*1521+294_*1521+313del | ENSP00000504353.1:n.*1521+294_*1521+313del | |
| ENST00000678546.1:c.*1217+294_*1217+313del | ENSP00000503062.1:n.*1217+294_*1217+313del | |
| ENST00000678548.1:c.*1344+294_*1344+313del | ENSP00000503934.1:n.*1344+294_*1344+313del | |
| ENST00000678626.1:n.969+294_969+313del | ||
| ENST00000678733.1:c.353+294_353+313del | ||
| ENST00000678739.1:c.*1598+294_*1598+313del | ENSP00000503806.1:n.*1598+294_*1598+313del | |
| ENST00000678795.1:n.359+294_359+313del | ||
| ENST00000678833.1:c.*719+294_*719+313del | ENSP00000503893.1:n.*719+294_*719+313del | |
| ENST00000678942.1:c.452+294_452+313del | ENSP00000504690.1:n.452+294_452+313del | |
| ENST00000679023.1:c.1110+294_1110+313del | ENSP00000503718.1:n.1110+294_1110+313del | |
| ENST00000679076.1:c.891+294_891+313del | ||
| ENST00000679111.1:c.1272+294_1272+313del | ENSP00000504257.1:n.1272+294_1272+313del | |
| ENST00000679189.1:c.921+294_921+313del | ENSP00000503356.1:n.921+294_921+313del | |
| ENST00000341012.11:c.1110+294_1110+313del | ENSP00000343034.7:n.1110+294_1110+313del | |
| ENST00000372228.7:c.1338+294_1338+313del | ENSP00000361302.3:n.1338+294_1338+313del | |
| ENST00000402686.7:c.1272+294_1272+313del | ENSP00000385797.3:n.1272+294_1272+313del | |
| ENST00000404875.6:c.921+294_921+313del | ENSP00000384531.2:n.921+294_921+313del | |
| ENST00000423007.5:c.1272+294_1272+313del | ENSP00000404119.1:n.1272+294_1272+313del | |
| ENST00000485278.5:n.1827+294_1827+313del | ||
| NM_001077365.1:c.1272+294_1272+313del | NP_001070833.1:n.1272+294_1272+313del | |
| NM_001077366.1:c.1110+294_1110+313del | NP_001070834.1:n.1110+294_1110+313del | |
| NM_001136113.1:c.1272+294_1272+313del | NP_001129585.1:n.1272+294_1272+313del | |
| NM_001136114.1:c.921+294_921+313del | NP_001129586.1:n.921+294_921+313del | |
| NM_007171.3:c.1338+294_1338+313del | NP_009102.3:n.1338+294_1338+313del | |
| XM_005272156.1:c.1338+294_1338+313del | XP_005272213.1:n.1338+294_1338+313del | |
| XM_005272158.1:c.1176+294_1176+313del | XP_005272215.1:n.1176+294_1176+313del | |
| XM_005272159.1:c.987+294_987+313del | XP_005272216.1:n.987+294_987+313del | |
| XM_005272162.1:c.141+294_141+313del | XP_005272219.1:n.141+294_141+313del | |
| XM_006716932.1:c.987+294_987+313del | XP_006716995.1:n.987+294_987+313del | |
| XM_011518140.1:c.1191+294_1191+313del | XP_011516442.1:n.1191+294_1191+313del | |
| XM_011518141.1:c.1125+294_1125+313del | XP_011516443.1:n.1125+294_1125+313del | |
| XM_011518142.1:c.1029+294_1029+313del | XP_011516444.1:n.1029+294_1029+313del | |
| XM_011518143.1:c.1023+294_1023+313del | XP_011516445.1:n.1023+294_1023+313del | |
| XM_011518144.1:c.1338+294_1338+313del | XP_011516446.1:n.1338+294_1338+313del | |
| XM_011518145.1:c.882+294_882+313del | XP_011516447.1:n.882+294_882+313del | |
| XM_011518146.1:c.1023+294_1023+313del | XP_011516448.1:n.1023+294_1023+313del | |
| XR_929703.1:n.1514+294_1514+313del | ||
| NM_001353193.1:c.1338+294_1338+313del | NP_001340122.1:n.1338+294_1338+313del | |
| NM_001353194.1:c.1110+294_1110+313del | NP_001340123.1:n.1110+294_1110+313del | |
| NM_001353195.1:c.921+294_921+313del | NP_001340124.1:n.921+294_921+313del | |
| NM_001353196.1:c.1182+294_1182+313del | NP_001340125.1:n.1182+294_1182+313del | |
| NM_001353197.1:c.1176+294_1176+313del | NP_001340126.1:n.1176+294_1176+313del | |
| NM_001353198.1:c.1176+294_1176+313del | NP_001340127.1:n.1176+294_1176+313del | |
| NM_001353199.1:c.987+294_987+313del | NP_001340128.1:n.987+294_987+313del | |
| NM_001353200.1:c.816+294_816+313del | NP_001340129.1:n.816+294_816+313del | |
| NR_148391.1:n.1322+294_1322+313del | ||
| NR_148392.1:n.1540+294_1540+313del | ||
| NR_148393.1:n.1322+294_1322+313del | ||
| NR_148394.1:n.1215+294_1215+313del | ||
| NR_148395.1:n.1474+294_1474+313del | ||
| NR_148396.1:n.1108+294_1108+313del | ||
| NR_148397.1:n.1372+294_1372+313del | ||
| NR_148398.1:n.1327+294_1327+313del | ||
| NR_148399.1:n.1714+294_1714+313del | ||
| NR_148400.1:n.1313+294_1313+313del | ||
| XM_005272162.3:c.141+294_141+313del | XP_005272219.1:n.141+294_141+313del | |
| XM_006716932.2:c.987+294_987+313del | XP_006716995.1:n.987+294_987+313del | |
| XM_011518140.2:c.1191+294_1191+313del | XP_011516442.1:n.1191+294_1191+313del | |
| XM_011518141.2:c.1125+294_1125+313del | XP_011516443.1:n.1125+294_1125+313del | |
| XM_011518142.2:c.1029+294_1029+313del | XP_011516444.1:n.1029+294_1029+313del | |
| XM_011518143.2:c.1023+294_1023+313del | XP_011516445.1:n.1023+294_1023+313del | |
| XM_011518145.2:c.882+294_882+313del | XP_011516447.1:n.882+294_882+313del | |
| XM_017014205.2:c.141+294_141+313del | XP_016869694.1:n.141+294_141+313del | |
| XM_024447380.1:c.141+294_141+313del | XP_024303148.1:n.141+294_141+313del | |
| XM_024447381.1:c.447+294_447+313del | XP_024303149.1:n.447+294_447+313del | |
| XM_024447382.1:c.141+294_141+313del | XP_024303150.1:n.141+294_141+313del | |
| XR_001746160.2:n.1442+294_1442+313del | ||
| XR_001746162.2:n.1508+294_1508+313del | ||
| XR_001746164.1:n.1225+294_1225+313del | ||
| XR_001746166.2:n.1659+294_1659+313del | ||
| NM_001077365.2:c.1272+294_1272+313del MANE Select | NP_001070833.1:n.1272+294_1272+313del | |
| NM_001077366.2:c.1110+294_1110+313del | NP_001070834.1:n.1110+294_1110+313del | |
| NM_001136113.2:c.1272+294_1272+313del | NP_001129585.1:n.1272+294_1272+313del | |
| NM_001136114.2:c.921+294_921+313del | NP_001129586.1:n.921+294_921+313del | |
| NM_001353193.2:c.1338+294_1338+313del | NP_001340122.2:n.1338+294_1338+313del | |
| NM_001353194.2:c.1110+294_1110+313del | NP_001340123.1:n.1110+294_1110+313del | |
| NM_001353195.2:c.921+294_921+313del | NP_001340124.1:n.921+294_921+313del | |
| NM_001353196.2:c.1182+294_1182+313del | NP_001340125.1:n.1182+294_1182+313del | |
| NM_001353197.2:c.1176+294_1176+313del | NP_001340126.2:n.1176+294_1176+313del | |
| NM_001353198.2:c.1176+294_1176+313del | NP_001340127.2:n.1176+294_1176+313del | |
| NM_001353199.2:c.987+294_987+313del | NP_001340128.2:n.987+294_987+313del | |
| NM_001353200.2:c.816+294_816+313del | NP_001340129.1:n.816+294_816+313del | |
| NM_001374689.1:c.1260+294_1260+313del | NP_001361618.1:n.1260+294_1260+313del | |
| NM_001374690.1:c.1272+294_1272+313del | NP_001361619.1:n.1272+294_1272+313del | |
| NM_001374691.1:c.921+294_921+313del | NP_001361620.1:n.921+294_921+313del | |
| NM_001374692.1:c.921+294_921+313del | NP_001361621.1:n.921+294_921+313del | |
| NM_001374693.1:c.921+294_921+313del | NP_001361622.1:n.921+294_921+313del | |
| NM_001374695.1:c.882+294_882+313del | NP_001361624.1:n.882+294_882+313del | |
| NM_007171.4:c.1338+294_1338+313del | NP_009102.4:n.1338+294_1338+313del | |
| NR_148391.2:n.1306+294_1306+313del | ||
| NR_148392.2:n.1524+294_1524+313del | ||
| NR_148393.2:n.1306+294_1306+313del | ||
| NR_148394.2:n.1199+294_1199+313del | ||
| NR_148395.2:n.1458+294_1458+313del | ||
| NR_148396.2:n.1092+294_1092+313del | ||
| NR_148397.2:n.1356+294_1356+313del | ||
| NR_148398.2:n.1311+294_1311+313del | ||
| NR_148399.2:n.1698+294_1698+313del | ||
| NR_148400.2:n.1297+294_1297+313del |