Linked Data
dbSNP Id:
rs1948308595
gnomAD v2:
9-134391209-AACACAGGACACTTCCTC-A
gnomAD v3:
9-131515822-AACACAGGACACTTCCTC-A
gnomAD v4:
9-131515822-AACACAGGACACTTCCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515827_131515843del , CM000671.2:g.131515827_131515843del | GRCh38 |
| NC_000009.11:g.134391214_134391230del , CM000671.1:g.134391214_134391230del | GRCh37 |
| NC_000009.10:g.133381035_133381051del | NCBI36 |
| NG_008896.1:g.17926_17942del | |
| NG_008896.2:g.17926_17942del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+305_1110+321del | ENSP00000343034.7:n.1110+305_1110+321del | |
| ENST00000404875.7:n.1812+305_1812+321del | ||
| ENST00000423007.6:c.1329+305_1329+321del | ENSP00000404119.2:n.1329+305_1329+321del | |
| ENST00000677295.2:c.*1616+305_*1616+321del | ENSP00000504346.2:n.*1616+305_*1616+321del | |
| ENST00000678264.2:c.*1455+305_*1455+321del | ENSP00000503157.2:n.*1455+305_*1455+321del | |
| ENST00000682070.1:n.1737+305_1737+321del | ||
| ENST00000682539.1:c.97+305_97+321del | ||
| ENST00000682813.1:n.1537+305_1537+321del | ||
| ENST00000683392.1:n.4019+305_4019+321del | ||
| ENST00000683712.1:n.1677+305_1677+321del | ||
| ENST00000683900.1:n.3172+305_3172+321del | ||
| ENST00000684062.1:n.1938+305_1938+321del | ||
| ENST00000684579.1:n.3118+305_3118+321del | ||
| ENST00000341012.12:c.1110+305_1110+321del | ENSP00000343034.7:n.1110+305_1110+321del | |
| ENST00000372220.5:c.141+305_141+321del | ENSP00000361294.5:n.141+305_141+321del | |
| ENST00000372228.9:c.1338+305_1338+321del | ENSP00000361302.3:n.1338+305_1338+321del | |
| ENST00000402686.8:c.1272+305_1272+321del MANE Select | ENSP00000385797.4:n.1272+305_1272+321del | |
| ENST00000676640.1:c.1272+305_1272+321del | ENSP00000503281.1:n.1272+305_1272+321del | |
| ENST00000676803.1:c.447+305_447+321del | ENSP00000503093.1:n.447+305_447+321del | |
| ENST00000676835.1:c.*487+305_*487+321del | ENSP00000502911.1:n.*487+305_*487+321del | |
| ENST00000677029.1:c.816+305_816+321del | ENSP00000502936.1:n.816+305_816+321del | |
| ENST00000677099.1:c.*982+305_*982+321del | ENSP00000504553.1:n.*982+305_*982+321del | |
| ENST00000677216.1:c.921+305_921+321del | ENSP00000503772.1:n.921+305_921+321del | |
| ENST00000677295.1:c.*649+305_*649+321del | ENSP00000504346.1:n.*649+305_*649+321del | |
| ENST00000677444.1:c.1078+305_1078+321del | ||
| ENST00000677586.1:n.753+305_753+321del | ||
| ENST00000677626.1:c.921+305_921+321del | ENSP00000503552.1:n.921+305_921+321del | |
| ENST00000677677.1:n.1232+305_1232+321del | ||
| ENST00000677853.1:c.*280+305_*280+321del | ENSP00000503488.1:n.*280+305_*280+321del | |
| ENST00000677944.1:c.534+305_534+321del | ||
| ENST00000678264.1:c.*649+305_*649+321del | ENSP00000503157.1:n.*649+305_*649+321del | |
| ENST00000678303.1:c.1182+305_1182+321del | ENSP00000503696.1:n.1182+305_1182+321del | |
| ENST00000678366.1:c.*1521+305_*1521+321del | ENSP00000504353.1:n.*1521+305_*1521+321del | |
| ENST00000678546.1:c.*1217+305_*1217+321del | ENSP00000503062.1:n.*1217+305_*1217+321del | |
| ENST00000678548.1:c.*1344+305_*1344+321del | ENSP00000503934.1:n.*1344+305_*1344+321del | |
| ENST00000678626.1:n.969+305_969+321del | ||
| ENST00000678733.1:c.353+305_353+321del | ||
| ENST00000678739.1:c.*1598+305_*1598+321del | ENSP00000503806.1:n.*1598+305_*1598+321del | |
| ENST00000678795.1:n.359+305_359+321del | ||
| ENST00000678833.1:c.*719+305_*719+321del | ENSP00000503893.1:n.*719+305_*719+321del | |
| ENST00000678942.1:c.452+305_452+321del | ENSP00000504690.1:n.452+305_452+321del | |
| ENST00000679023.1:c.1110+305_1110+321del | ENSP00000503718.1:n.1110+305_1110+321del | |
| ENST00000679076.1:c.891+305_891+321del | ||
| ENST00000679111.1:c.1272+305_1272+321del | ENSP00000504257.1:n.1272+305_1272+321del | |
| ENST00000679189.1:c.921+305_921+321del | ENSP00000503356.1:n.921+305_921+321del | |
| ENST00000341012.11:c.1110+305_1110+321del | ENSP00000343034.7:n.1110+305_1110+321del | |
| ENST00000372228.7:c.1338+305_1338+321del | ENSP00000361302.3:n.1338+305_1338+321del | |
| ENST00000402686.7:c.1272+305_1272+321del | ENSP00000385797.3:n.1272+305_1272+321del | |
| ENST00000404875.6:c.921+305_921+321del | ENSP00000384531.2:n.921+305_921+321del | |
| ENST00000423007.5:c.1272+305_1272+321del | ENSP00000404119.1:n.1272+305_1272+321del | |
| ENST00000485278.5:n.1827+305_1827+321del | ||
| NM_001077365.1:c.1272+305_1272+321del | NP_001070833.1:n.1272+305_1272+321del | |
| NM_001077366.1:c.1110+305_1110+321del | NP_001070834.1:n.1110+305_1110+321del | |
| NM_001136113.1:c.1272+305_1272+321del | NP_001129585.1:n.1272+305_1272+321del | |
| NM_001136114.1:c.921+305_921+321del | NP_001129586.1:n.921+305_921+321del | |
| NM_007171.3:c.1338+305_1338+321del | NP_009102.3:n.1338+305_1338+321del | |
| XM_005272156.1:c.1338+305_1338+321del | XP_005272213.1:n.1338+305_1338+321del | |
| XM_005272158.1:c.1176+305_1176+321del | XP_005272215.1:n.1176+305_1176+321del | |
| XM_005272159.1:c.987+305_987+321del | XP_005272216.1:n.987+305_987+321del | |
| XM_005272162.1:c.141+305_141+321del | XP_005272219.1:n.141+305_141+321del | |
| XM_006716932.1:c.987+305_987+321del | XP_006716995.1:n.987+305_987+321del | |
| XM_011518140.1:c.1191+305_1191+321del | XP_011516442.1:n.1191+305_1191+321del | |
| XM_011518141.1:c.1125+305_1125+321del | XP_011516443.1:n.1125+305_1125+321del | |
| XM_011518142.1:c.1029+305_1029+321del | XP_011516444.1:n.1029+305_1029+321del | |
| XM_011518143.1:c.1023+305_1023+321del | XP_011516445.1:n.1023+305_1023+321del | |
| XM_011518144.1:c.1338+305_1338+321del | XP_011516446.1:n.1338+305_1338+321del | |
| XM_011518145.1:c.882+305_882+321del | XP_011516447.1:n.882+305_882+321del | |
| XM_011518146.1:c.1023+305_1023+321del | XP_011516448.1:n.1023+305_1023+321del | |
| XR_929703.1:n.1514+305_1514+321del | ||
| NM_001353193.1:c.1338+305_1338+321del | NP_001340122.1:n.1338+305_1338+321del | |
| NM_001353194.1:c.1110+305_1110+321del | NP_001340123.1:n.1110+305_1110+321del | |
| NM_001353195.1:c.921+305_921+321del | NP_001340124.1:n.921+305_921+321del | |
| NM_001353196.1:c.1182+305_1182+321del | NP_001340125.1:n.1182+305_1182+321del | |
| NM_001353197.1:c.1176+305_1176+321del | NP_001340126.1:n.1176+305_1176+321del | |
| NM_001353198.1:c.1176+305_1176+321del | NP_001340127.1:n.1176+305_1176+321del | |
| NM_001353199.1:c.987+305_987+321del | NP_001340128.1:n.987+305_987+321del | |
| NM_001353200.1:c.816+305_816+321del | NP_001340129.1:n.816+305_816+321del | |
| NR_148391.1:n.1322+305_1322+321del | ||
| NR_148392.1:n.1540+305_1540+321del | ||
| NR_148393.1:n.1322+305_1322+321del | ||
| NR_148394.1:n.1215+305_1215+321del | ||
| NR_148395.1:n.1474+305_1474+321del | ||
| NR_148396.1:n.1108+305_1108+321del | ||
| NR_148397.1:n.1372+305_1372+321del | ||
| NR_148398.1:n.1327+305_1327+321del | ||
| NR_148399.1:n.1714+305_1714+321del | ||
| NR_148400.1:n.1313+305_1313+321del | ||
| XM_005272162.3:c.141+305_141+321del | XP_005272219.1:n.141+305_141+321del | |
| XM_006716932.2:c.987+305_987+321del | XP_006716995.1:n.987+305_987+321del | |
| XM_011518140.2:c.1191+305_1191+321del | XP_011516442.1:n.1191+305_1191+321del | |
| XM_011518141.2:c.1125+305_1125+321del | XP_011516443.1:n.1125+305_1125+321del | |
| XM_011518142.2:c.1029+305_1029+321del | XP_011516444.1:n.1029+305_1029+321del | |
| XM_011518143.2:c.1023+305_1023+321del | XP_011516445.1:n.1023+305_1023+321del | |
| XM_011518145.2:c.882+305_882+321del | XP_011516447.1:n.882+305_882+321del | |
| XM_017014205.2:c.141+305_141+321del | XP_016869694.1:n.141+305_141+321del | |
| XM_024447380.1:c.141+305_141+321del | XP_024303148.1:n.141+305_141+321del | |
| XM_024447381.1:c.447+305_447+321del | XP_024303149.1:n.447+305_447+321del | |
| XM_024447382.1:c.141+305_141+321del | XP_024303150.1:n.141+305_141+321del | |
| XR_001746160.2:n.1442+305_1442+321del | ||
| XR_001746162.2:n.1508+305_1508+321del | ||
| XR_001746164.1:n.1225+305_1225+321del | ||
| XR_001746166.2:n.1659+305_1659+321del | ||
| NM_001077365.2:c.1272+305_1272+321del MANE Select | NP_001070833.1:n.1272+305_1272+321del | |
| NM_001077366.2:c.1110+305_1110+321del | NP_001070834.1:n.1110+305_1110+321del | |
| NM_001136113.2:c.1272+305_1272+321del | NP_001129585.1:n.1272+305_1272+321del | |
| NM_001136114.2:c.921+305_921+321del | NP_001129586.1:n.921+305_921+321del | |
| NM_001353193.2:c.1338+305_1338+321del | NP_001340122.2:n.1338+305_1338+321del | |
| NM_001353194.2:c.1110+305_1110+321del | NP_001340123.1:n.1110+305_1110+321del | |
| NM_001353195.2:c.921+305_921+321del | NP_001340124.1:n.921+305_921+321del | |
| NM_001353196.2:c.1182+305_1182+321del | NP_001340125.1:n.1182+305_1182+321del | |
| NM_001353197.2:c.1176+305_1176+321del | NP_001340126.2:n.1176+305_1176+321del | |
| NM_001353198.2:c.1176+305_1176+321del | NP_001340127.2:n.1176+305_1176+321del | |
| NM_001353199.2:c.987+305_987+321del | NP_001340128.2:n.987+305_987+321del | |
| NM_001353200.2:c.816+305_816+321del | NP_001340129.1:n.816+305_816+321del | |
| NM_001374689.1:c.1260+305_1260+321del | NP_001361618.1:n.1260+305_1260+321del | |
| NM_001374690.1:c.1272+305_1272+321del | NP_001361619.1:n.1272+305_1272+321del | |
| NM_001374691.1:c.921+305_921+321del | NP_001361620.1:n.921+305_921+321del | |
| NM_001374692.1:c.921+305_921+321del | NP_001361621.1:n.921+305_921+321del | |
| NM_001374693.1:c.921+305_921+321del | NP_001361622.1:n.921+305_921+321del | |
| NM_001374695.1:c.882+305_882+321del | NP_001361624.1:n.882+305_882+321del | |
| NM_007171.4:c.1338+305_1338+321del | NP_009102.4:n.1338+305_1338+321del | |
| NR_148391.2:n.1306+305_1306+321del | ||
| NR_148392.2:n.1524+305_1524+321del | ||
| NR_148393.2:n.1306+305_1306+321del | ||
| NR_148394.2:n.1199+305_1199+321del | ||
| NR_148395.2:n.1458+305_1458+321del | ||
| NR_148396.2:n.1092+305_1092+321del | ||
| NR_148397.2:n.1356+305_1356+321del | ||
| NR_148398.2:n.1311+305_1311+321del | ||
| NR_148399.2:n.1698+305_1698+321del | ||
| NR_148400.2:n.1297+305_1297+321del |