Linked Data
dbSNP Id:
rs150484413
gnomAD v2:
9-134391173-AAC-A
gnomAD v3:
9-131515786-AAC-A
gnomAD v4:
9-131515786-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515790_131515791del , CM000671.2:g.131515790_131515791del | GRCh38 |
| NC_000009.11:g.134391177_134391178del , CM000671.1:g.134391177_134391178del | GRCh37 |
| NC_000009.10:g.133380998_133380999del | NCBI36 |
| NG_008896.1:g.17889_17890del | |
| NG_008896.2:g.17889_17890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+268_1110+269del | ENSP00000343034.7:n.1110+268_1110+269del | |
| ENST00000404875.7:n.1812+268_1812+269del | ||
| ENST00000423007.6:c.1329+268_1329+269del | ENSP00000404119.2:n.1329+268_1329+269del | |
| ENST00000677295.2:c.*1616+268_*1616+269del | ENSP00000504346.2:n.*1616+268_*1616+269del | |
| ENST00000678264.2:c.*1455+268_*1455+269del | ENSP00000503157.2:n.*1455+268_*1455+269del | |
| ENST00000682070.1:n.1737+268_1737+269del | ||
| ENST00000682539.1:c.97+268_97+269del | ||
| ENST00000682813.1:n.1537+268_1537+269del | ||
| ENST00000683392.1:n.4019+268_4019+269del | ||
| ENST00000683712.1:n.1677+268_1677+269del | ||
| ENST00000683900.1:n.3172+268_3172+269del | ||
| ENST00000684062.1:n.1938+268_1938+269del | ||
| ENST00000684579.1:n.3118+268_3118+269del | ||
| ENST00000341012.12:c.1110+268_1110+269del | ENSP00000343034.7:n.1110+268_1110+269del | |
| ENST00000372220.5:c.141+268_141+269del | ENSP00000361294.5:n.141+268_141+269del | |
| ENST00000372228.9:c.1338+268_1338+269del | ENSP00000361302.3:n.1338+268_1338+269del | |
| ENST00000402686.8:c.1272+268_1272+269del MANE Select | ENSP00000385797.4:n.1272+268_1272+269del | |
| ENST00000676640.1:c.1272+268_1272+269del | ENSP00000503281.1:n.1272+268_1272+269del | |
| ENST00000676803.1:c.447+268_447+269del | ENSP00000503093.1:n.447+268_447+269del | |
| ENST00000676835.1:c.*487+268_*487+269del | ENSP00000502911.1:n.*487+268_*487+269del | |
| ENST00000677029.1:c.816+268_816+269del | ENSP00000502936.1:n.816+268_816+269del | |
| ENST00000677099.1:c.*982+268_*982+269del | ENSP00000504553.1:n.*982+268_*982+269del | |
| ENST00000677216.1:c.921+268_921+269del | ENSP00000503772.1:n.921+268_921+269del | |
| ENST00000677295.1:c.*649+268_*649+269del | ENSP00000504346.1:n.*649+268_*649+269del | |
| ENST00000677444.1:c.1078+268_1078+269del | ||
| ENST00000677586.1:n.753+268_753+269del | ||
| ENST00000677626.1:c.921+268_921+269del | ENSP00000503552.1:n.921+268_921+269del | |
| ENST00000677677.1:n.1232+268_1232+269del | ||
| ENST00000677853.1:c.*280+268_*280+269del | ENSP00000503488.1:n.*280+268_*280+269del | |
| ENST00000677944.1:c.534+268_534+269del | ||
| ENST00000678264.1:c.*649+268_*649+269del | ENSP00000503157.1:n.*649+268_*649+269del | |
| ENST00000678303.1:c.1182+268_1182+269del | ENSP00000503696.1:n.1182+268_1182+269del | |
| ENST00000678366.1:c.*1521+268_*1521+269del | ENSP00000504353.1:n.*1521+268_*1521+269del | |
| ENST00000678546.1:c.*1217+268_*1217+269del | ENSP00000503062.1:n.*1217+268_*1217+269del | |
| ENST00000678548.1:c.*1344+268_*1344+269del | ENSP00000503934.1:n.*1344+268_*1344+269del | |
| ENST00000678626.1:n.969+268_969+269del | ||
| ENST00000678733.1:c.353+268_353+269del | ||
| ENST00000678739.1:c.*1598+268_*1598+269del | ENSP00000503806.1:n.*1598+268_*1598+269del | |
| ENST00000678795.1:n.359+268_359+269del | ||
| ENST00000678833.1:c.*719+268_*719+269del | ENSP00000503893.1:n.*719+268_*719+269del | |
| ENST00000678942.1:c.452+268_452+269del | ENSP00000504690.1:n.452+268_452+269del | |
| ENST00000679023.1:c.1110+268_1110+269del | ENSP00000503718.1:n.1110+268_1110+269del | |
| ENST00000679076.1:c.891+268_891+269del | ||
| ENST00000679111.1:c.1272+268_1272+269del | ENSP00000504257.1:n.1272+268_1272+269del | |
| ENST00000679189.1:c.921+268_921+269del | ENSP00000503356.1:n.921+268_921+269del | |
| ENST00000341012.11:c.1110+268_1110+269del | ENSP00000343034.7:n.1110+268_1110+269del | |
| ENST00000372228.7:c.1338+268_1338+269del | ENSP00000361302.3:n.1338+268_1338+269del | |
| ENST00000402686.7:c.1272+268_1272+269del | ENSP00000385797.3:n.1272+268_1272+269del | |
| ENST00000404875.6:c.921+268_921+269del | ENSP00000384531.2:n.921+268_921+269del | |
| ENST00000423007.5:c.1272+268_1272+269del | ENSP00000404119.1:n.1272+268_1272+269del | |
| ENST00000485278.5:n.1827+268_1827+269del | ||
| NM_001077365.1:c.1272+268_1272+269del | NP_001070833.1:n.1272+268_1272+269del | |
| NM_001077366.1:c.1110+268_1110+269del | NP_001070834.1:n.1110+268_1110+269del | |
| NM_001136113.1:c.1272+268_1272+269del | NP_001129585.1:n.1272+268_1272+269del | |
| NM_001136114.1:c.921+268_921+269del | NP_001129586.1:n.921+268_921+269del | |
| NM_007171.3:c.1338+268_1338+269del | NP_009102.3:n.1338+268_1338+269del | |
| XM_005272156.1:c.1338+268_1338+269del | XP_005272213.1:n.1338+268_1338+269del | |
| XM_005272158.1:c.1176+268_1176+269del | XP_005272215.1:n.1176+268_1176+269del | |
| XM_005272159.1:c.987+268_987+269del | XP_005272216.1:n.987+268_987+269del | |
| XM_005272162.1:c.141+268_141+269del | XP_005272219.1:n.141+268_141+269del | |
| XM_006716932.1:c.987+268_987+269del | XP_006716995.1:n.987+268_987+269del | |
| XM_011518140.1:c.1191+268_1191+269del | XP_011516442.1:n.1191+268_1191+269del | |
| XM_011518141.1:c.1125+268_1125+269del | XP_011516443.1:n.1125+268_1125+269del | |
| XM_011518142.1:c.1029+268_1029+269del | XP_011516444.1:n.1029+268_1029+269del | |
| XM_011518143.1:c.1023+268_1023+269del | XP_011516445.1:n.1023+268_1023+269del | |
| XM_011518144.1:c.1338+268_1338+269del | XP_011516446.1:n.1338+268_1338+269del | |
| XM_011518145.1:c.882+268_882+269del | XP_011516447.1:n.882+268_882+269del | |
| XM_011518146.1:c.1023+268_1023+269del | XP_011516448.1:n.1023+268_1023+269del | |
| XR_929703.1:n.1514+268_1514+269del | ||
| NM_001353193.1:c.1338+268_1338+269del | NP_001340122.1:n.1338+268_1338+269del | |
| NM_001353194.1:c.1110+268_1110+269del | NP_001340123.1:n.1110+268_1110+269del | |
| NM_001353195.1:c.921+268_921+269del | NP_001340124.1:n.921+268_921+269del | |
| NM_001353196.1:c.1182+268_1182+269del | NP_001340125.1:n.1182+268_1182+269del | |
| NM_001353197.1:c.1176+268_1176+269del | NP_001340126.1:n.1176+268_1176+269del | |
| NM_001353198.1:c.1176+268_1176+269del | NP_001340127.1:n.1176+268_1176+269del | |
| NM_001353199.1:c.987+268_987+269del | NP_001340128.1:n.987+268_987+269del | |
| NM_001353200.1:c.816+268_816+269del | NP_001340129.1:n.816+268_816+269del | |
| NR_148391.1:n.1322+268_1322+269del | ||
| NR_148392.1:n.1540+268_1540+269del | ||
| NR_148393.1:n.1322+268_1322+269del | ||
| NR_148394.1:n.1215+268_1215+269del | ||
| NR_148395.1:n.1474+268_1474+269del | ||
| NR_148396.1:n.1108+268_1108+269del | ||
| NR_148397.1:n.1372+268_1372+269del | ||
| NR_148398.1:n.1327+268_1327+269del | ||
| NR_148399.1:n.1714+268_1714+269del | ||
| NR_148400.1:n.1313+268_1313+269del | ||
| XM_005272162.3:c.141+268_141+269del | XP_005272219.1:n.141+268_141+269del | |
| XM_006716932.2:c.987+268_987+269del | XP_006716995.1:n.987+268_987+269del | |
| XM_011518140.2:c.1191+268_1191+269del | XP_011516442.1:n.1191+268_1191+269del | |
| XM_011518141.2:c.1125+268_1125+269del | XP_011516443.1:n.1125+268_1125+269del | |
| XM_011518142.2:c.1029+268_1029+269del | XP_011516444.1:n.1029+268_1029+269del | |
| XM_011518143.2:c.1023+268_1023+269del | XP_011516445.1:n.1023+268_1023+269del | |
| XM_011518145.2:c.882+268_882+269del | XP_011516447.1:n.882+268_882+269del | |
| XM_017014205.2:c.141+268_141+269del | XP_016869694.1:n.141+268_141+269del | |
| XM_024447380.1:c.141+268_141+269del | XP_024303148.1:n.141+268_141+269del | |
| XM_024447381.1:c.447+268_447+269del | XP_024303149.1:n.447+268_447+269del | |
| XM_024447382.1:c.141+268_141+269del | XP_024303150.1:n.141+268_141+269del | |
| XR_001746160.2:n.1442+268_1442+269del | ||
| XR_001746162.2:n.1508+268_1508+269del | ||
| XR_001746164.1:n.1225+268_1225+269del | ||
| XR_001746166.2:n.1659+268_1659+269del | ||
| NM_001077365.2:c.1272+268_1272+269del MANE Select | NP_001070833.1:n.1272+268_1272+269del | |
| NM_001077366.2:c.1110+268_1110+269del | NP_001070834.1:n.1110+268_1110+269del | |
| NM_001136113.2:c.1272+268_1272+269del | NP_001129585.1:n.1272+268_1272+269del | |
| NM_001136114.2:c.921+268_921+269del | NP_001129586.1:n.921+268_921+269del | |
| NM_001353193.2:c.1338+268_1338+269del | NP_001340122.2:n.1338+268_1338+269del | |
| NM_001353194.2:c.1110+268_1110+269del | NP_001340123.1:n.1110+268_1110+269del | |
| NM_001353195.2:c.921+268_921+269del | NP_001340124.1:n.921+268_921+269del | |
| NM_001353196.2:c.1182+268_1182+269del | NP_001340125.1:n.1182+268_1182+269del | |
| NM_001353197.2:c.1176+268_1176+269del | NP_001340126.2:n.1176+268_1176+269del | |
| NM_001353198.2:c.1176+268_1176+269del | NP_001340127.2:n.1176+268_1176+269del | |
| NM_001353199.2:c.987+268_987+269del | NP_001340128.2:n.987+268_987+269del | |
| NM_001353200.2:c.816+268_816+269del | NP_001340129.1:n.816+268_816+269del | |
| NM_001374689.1:c.1260+268_1260+269del | NP_001361618.1:n.1260+268_1260+269del | |
| NM_001374690.1:c.1272+268_1272+269del | NP_001361619.1:n.1272+268_1272+269del | |
| NM_001374691.1:c.921+268_921+269del | NP_001361620.1:n.921+268_921+269del | |
| NM_001374692.1:c.921+268_921+269del | NP_001361621.1:n.921+268_921+269del | |
| NM_001374693.1:c.921+268_921+269del | NP_001361622.1:n.921+268_921+269del | |
| NM_001374695.1:c.882+268_882+269del | NP_001361624.1:n.882+268_882+269del | |
| NM_007171.4:c.1338+268_1338+269del | NP_009102.4:n.1338+268_1338+269del | |
| NR_148391.2:n.1306+268_1306+269del | ||
| NR_148392.2:n.1524+268_1524+269del | ||
| NR_148393.2:n.1306+268_1306+269del | ||
| NR_148394.2:n.1199+268_1199+269del | ||
| NR_148395.2:n.1458+268_1458+269del | ||
| NR_148396.2:n.1092+268_1092+269del | ||
| NR_148397.2:n.1356+268_1356+269del | ||
| NR_148398.2:n.1311+268_1311+269del | ||
| NR_148399.2:n.1698+268_1698+269del | ||
| NR_148400.2:n.1297+268_1297+269del |