Linked Data
dbSNP Id:
rs1948239291
gnomAD v3:
9-131515764-TCTAACATGGAGCACTTCCTGTAA-T
gnomAD v4:
9-131515764-TCTAACATGGAGCACTTCCTGTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515766_131515788del , CM000671.2:g.131515766_131515788del | GRCh38 |
| NC_000009.11:g.134391153_134391175del , CM000671.1:g.134391153_134391175del | GRCh37 |
| NC_000009.10:g.133380974_133380996del | NCBI36 |
| NG_008896.1:g.17865_17887del | |
| NG_008896.2:g.17865_17887del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+244_1110+266del | ENSP00000343034.7:n.1110+244_1110+266del | |
| ENST00000404875.7:n.1812+244_1812+266del | ||
| ENST00000423007.6:c.1329+244_1329+266del | ENSP00000404119.2:n.1329+244_1329+266del | |
| ENST00000677295.2:c.*1616+244_*1616+266del | ENSP00000504346.2:n.*1616+244_*1616+266del | |
| ENST00000678264.2:c.*1455+244_*1455+266del | ENSP00000503157.2:n.*1455+244_*1455+266del | |
| ENST00000682070.1:n.1737+244_1737+266del | ||
| ENST00000682539.1:c.97+244_97+266del | ||
| ENST00000682813.1:n.1537+244_1537+266del | ||
| ENST00000683392.1:n.4019+244_4019+266del | ||
| ENST00000683712.1:n.1677+244_1677+266del | ||
| ENST00000683900.1:n.3172+244_3172+266del | ||
| ENST00000684062.1:n.1938+244_1938+266del | ||
| ENST00000684579.1:n.3118+244_3118+266del | ||
| ENST00000341012.12:c.1110+244_1110+266del | ENSP00000343034.7:n.1110+244_1110+266del | |
| ENST00000372220.5:c.141+244_141+266del | ENSP00000361294.5:n.141+244_141+266del | |
| ENST00000372228.9:c.1338+244_1338+266del | ENSP00000361302.3:n.1338+244_1338+266del | |
| ENST00000402686.8:c.1272+244_1272+266del MANE Select | ENSP00000385797.4:n.1272+244_1272+266del | |
| ENST00000676640.1:c.1272+244_1272+266del | ENSP00000503281.1:n.1272+244_1272+266del | |
| ENST00000676803.1:c.447+244_447+266del | ENSP00000503093.1:n.447+244_447+266del | |
| ENST00000676835.1:c.*487+244_*487+266del | ENSP00000502911.1:n.*487+244_*487+266del | |
| ENST00000677029.1:c.816+244_816+266del | ENSP00000502936.1:n.816+244_816+266del | |
| ENST00000677099.1:c.*982+244_*982+266del | ENSP00000504553.1:n.*982+244_*982+266del | |
| ENST00000677216.1:c.921+244_921+266del | ENSP00000503772.1:n.921+244_921+266del | |
| ENST00000677295.1:c.*649+244_*649+266del | ENSP00000504346.1:n.*649+244_*649+266del | |
| ENST00000677444.1:c.1078+244_1078+266del | ||
| ENST00000677586.1:n.753+244_753+266del | ||
| ENST00000677626.1:c.921+244_921+266del | ENSP00000503552.1:n.921+244_921+266del | |
| ENST00000677677.1:n.1232+244_1232+266del | ||
| ENST00000677853.1:c.*280+244_*280+266del | ENSP00000503488.1:n.*280+244_*280+266del | |
| ENST00000677944.1:c.534+244_534+266del | ||
| ENST00000678264.1:c.*649+244_*649+266del | ENSP00000503157.1:n.*649+244_*649+266del | |
| ENST00000678303.1:c.1182+244_1182+266del | ENSP00000503696.1:n.1182+244_1182+266del | |
| ENST00000678366.1:c.*1521+244_*1521+266del | ENSP00000504353.1:n.*1521+244_*1521+266del | |
| ENST00000678546.1:c.*1217+244_*1217+266del | ENSP00000503062.1:n.*1217+244_*1217+266del | |
| ENST00000678548.1:c.*1344+244_*1344+266del | ENSP00000503934.1:n.*1344+244_*1344+266del | |
| ENST00000678626.1:n.969+244_969+266del | ||
| ENST00000678733.1:c.353+244_353+266del | ||
| ENST00000678739.1:c.*1598+244_*1598+266del | ENSP00000503806.1:n.*1598+244_*1598+266del | |
| ENST00000678795.1:n.359+244_359+266del | ||
| ENST00000678833.1:c.*719+244_*719+266del | ENSP00000503893.1:n.*719+244_*719+266del | |
| ENST00000678942.1:c.452+244_452+266del | ENSP00000504690.1:n.452+244_452+266del | |
| ENST00000679023.1:c.1110+244_1110+266del | ENSP00000503718.1:n.1110+244_1110+266del | |
| ENST00000679076.1:c.891+244_891+266del | ||
| ENST00000679111.1:c.1272+244_1272+266del | ENSP00000504257.1:n.1272+244_1272+266del | |
| ENST00000679189.1:c.921+244_921+266del | ENSP00000503356.1:n.921+244_921+266del | |
| ENST00000341012.11:c.1110+244_1110+266del | ENSP00000343034.7:n.1110+244_1110+266del | |
| ENST00000372228.7:c.1338+244_1338+266del | ENSP00000361302.3:n.1338+244_1338+266del | |
| ENST00000402686.7:c.1272+244_1272+266del | ENSP00000385797.3:n.1272+244_1272+266del | |
| ENST00000404875.6:c.921+244_921+266del | ENSP00000384531.2:n.921+244_921+266del | |
| ENST00000423007.5:c.1272+244_1272+266del | ENSP00000404119.1:n.1272+244_1272+266del | |
| ENST00000485278.5:n.1827+244_1827+266del | ||
| NM_001077365.1:c.1272+244_1272+266del | NP_001070833.1:n.1272+244_1272+266del | |
| NM_001077366.1:c.1110+244_1110+266del | NP_001070834.1:n.1110+244_1110+266del | |
| NM_001136113.1:c.1272+244_1272+266del | NP_001129585.1:n.1272+244_1272+266del | |
| NM_001136114.1:c.921+244_921+266del | NP_001129586.1:n.921+244_921+266del | |
| NM_007171.3:c.1338+244_1338+266del | NP_009102.3:n.1338+244_1338+266del | |
| XM_005272156.1:c.1338+244_1338+266del | XP_005272213.1:n.1338+244_1338+266del | |
| XM_005272158.1:c.1176+244_1176+266del | XP_005272215.1:n.1176+244_1176+266del | |
| XM_005272159.1:c.987+244_987+266del | XP_005272216.1:n.987+244_987+266del | |
| XM_005272162.1:c.141+244_141+266del | XP_005272219.1:n.141+244_141+266del | |
| XM_006716932.1:c.987+244_987+266del | XP_006716995.1:n.987+244_987+266del | |
| XM_011518140.1:c.1191+244_1191+266del | XP_011516442.1:n.1191+244_1191+266del | |
| XM_011518141.1:c.1125+244_1125+266del | XP_011516443.1:n.1125+244_1125+266del | |
| XM_011518142.1:c.1029+244_1029+266del | XP_011516444.1:n.1029+244_1029+266del | |
| XM_011518143.1:c.1023+244_1023+266del | XP_011516445.1:n.1023+244_1023+266del | |
| XM_011518144.1:c.1338+244_1338+266del | XP_011516446.1:n.1338+244_1338+266del | |
| XM_011518145.1:c.882+244_882+266del | XP_011516447.1:n.882+244_882+266del | |
| XM_011518146.1:c.1023+244_1023+266del | XP_011516448.1:n.1023+244_1023+266del | |
| XR_929703.1:n.1514+244_1514+266del | ||
| NM_001353193.1:c.1338+244_1338+266del | NP_001340122.1:n.1338+244_1338+266del | |
| NM_001353194.1:c.1110+244_1110+266del | NP_001340123.1:n.1110+244_1110+266del | |
| NM_001353195.1:c.921+244_921+266del | NP_001340124.1:n.921+244_921+266del | |
| NM_001353196.1:c.1182+244_1182+266del | NP_001340125.1:n.1182+244_1182+266del | |
| NM_001353197.1:c.1176+244_1176+266del | NP_001340126.1:n.1176+244_1176+266del | |
| NM_001353198.1:c.1176+244_1176+266del | NP_001340127.1:n.1176+244_1176+266del | |
| NM_001353199.1:c.987+244_987+266del | NP_001340128.1:n.987+244_987+266del | |
| NM_001353200.1:c.816+244_816+266del | NP_001340129.1:n.816+244_816+266del | |
| NR_148391.1:n.1322+244_1322+266del | ||
| NR_148392.1:n.1540+244_1540+266del | ||
| NR_148393.1:n.1322+244_1322+266del | ||
| NR_148394.1:n.1215+244_1215+266del | ||
| NR_148395.1:n.1474+244_1474+266del | ||
| NR_148396.1:n.1108+244_1108+266del | ||
| NR_148397.1:n.1372+244_1372+266del | ||
| NR_148398.1:n.1327+244_1327+266del | ||
| NR_148399.1:n.1714+244_1714+266del | ||
| NR_148400.1:n.1313+244_1313+266del | ||
| XM_005272162.3:c.141+244_141+266del | XP_005272219.1:n.141+244_141+266del | |
| XM_006716932.2:c.987+244_987+266del | XP_006716995.1:n.987+244_987+266del | |
| XM_011518140.2:c.1191+244_1191+266del | XP_011516442.1:n.1191+244_1191+266del | |
| XM_011518141.2:c.1125+244_1125+266del | XP_011516443.1:n.1125+244_1125+266del | |
| XM_011518142.2:c.1029+244_1029+266del | XP_011516444.1:n.1029+244_1029+266del | |
| XM_011518143.2:c.1023+244_1023+266del | XP_011516445.1:n.1023+244_1023+266del | |
| XM_011518145.2:c.882+244_882+266del | XP_011516447.1:n.882+244_882+266del | |
| XM_017014205.2:c.141+244_141+266del | XP_016869694.1:n.141+244_141+266del | |
| XM_024447380.1:c.141+244_141+266del | XP_024303148.1:n.141+244_141+266del | |
| XM_024447381.1:c.447+244_447+266del | XP_024303149.1:n.447+244_447+266del | |
| XM_024447382.1:c.141+244_141+266del | XP_024303150.1:n.141+244_141+266del | |
| XR_001746160.2:n.1442+244_1442+266del | ||
| XR_001746162.2:n.1508+244_1508+266del | ||
| XR_001746164.1:n.1225+244_1225+266del | ||
| XR_001746166.2:n.1659+244_1659+266del | ||
| NM_001077365.2:c.1272+244_1272+266del MANE Select | NP_001070833.1:n.1272+244_1272+266del | |
| NM_001077366.2:c.1110+244_1110+266del | NP_001070834.1:n.1110+244_1110+266del | |
| NM_001136113.2:c.1272+244_1272+266del | NP_001129585.1:n.1272+244_1272+266del | |
| NM_001136114.2:c.921+244_921+266del | NP_001129586.1:n.921+244_921+266del | |
| NM_001353193.2:c.1338+244_1338+266del | NP_001340122.2:n.1338+244_1338+266del | |
| NM_001353194.2:c.1110+244_1110+266del | NP_001340123.1:n.1110+244_1110+266del | |
| NM_001353195.2:c.921+244_921+266del | NP_001340124.1:n.921+244_921+266del | |
| NM_001353196.2:c.1182+244_1182+266del | NP_001340125.1:n.1182+244_1182+266del | |
| NM_001353197.2:c.1176+244_1176+266del | NP_001340126.2:n.1176+244_1176+266del | |
| NM_001353198.2:c.1176+244_1176+266del | NP_001340127.2:n.1176+244_1176+266del | |
| NM_001353199.2:c.987+244_987+266del | NP_001340128.2:n.987+244_987+266del | |
| NM_001353200.2:c.816+244_816+266del | NP_001340129.1:n.816+244_816+266del | |
| NM_001374689.1:c.1260+244_1260+266del | NP_001361618.1:n.1260+244_1260+266del | |
| NM_001374690.1:c.1272+244_1272+266del | NP_001361619.1:n.1272+244_1272+266del | |
| NM_001374691.1:c.921+244_921+266del | NP_001361620.1:n.921+244_921+266del | |
| NM_001374692.1:c.921+244_921+266del | NP_001361621.1:n.921+244_921+266del | |
| NM_001374693.1:c.921+244_921+266del | NP_001361622.1:n.921+244_921+266del | |
| NM_001374695.1:c.882+244_882+266del | NP_001361624.1:n.882+244_882+266del | |
| NM_007171.4:c.1338+244_1338+266del | NP_009102.4:n.1338+244_1338+266del | |
| NR_148391.2:n.1306+244_1306+266del | ||
| NR_148392.2:n.1524+244_1524+266del | ||
| NR_148393.2:n.1306+244_1306+266del | ||
| NR_148394.2:n.1199+244_1199+266del | ||
| NR_148395.2:n.1458+244_1458+266del | ||
| NR_148396.2:n.1092+244_1092+266del | ||
| NR_148397.2:n.1356+244_1356+266del | ||
| NR_148398.2:n.1311+244_1311+266del | ||
| NR_148399.2:n.1698+244_1698+266del | ||
| NR_148400.2:n.1297+244_1297+266del |