Linked Data
dbSNP Id:
rs1564366975
gnomAD v2:
9-134391181-ACACTTCCTCACACGGAG-A
gnomAD v3:
9-131515794-ACACTTCCTCACACGGAG-A
gnomAD v4:
9-131515794-ACACTTCCTCACACGGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515804_131515820del , CM000671.2:g.131515804_131515820del | GRCh38 |
| NC_000009.11:g.134391191_134391207del , CM000671.1:g.134391191_134391207del | GRCh37 |
| NC_000009.10:g.133381012_133381028del | NCBI36 |
| NG_008896.1:g.17903_17919del | |
| NG_008896.2:g.17903_17919del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+282_1110+298del | ENSP00000343034.7:n.1110+282_1110+298del | |
| ENST00000404875.7:n.1812+282_1812+298del | ||
| ENST00000423007.6:c.1329+282_1329+298del | ENSP00000404119.2:n.1329+282_1329+298del | |
| ENST00000677295.2:c.*1616+282_*1616+298del | ENSP00000504346.2:n.*1616+282_*1616+298del | |
| ENST00000678264.2:c.*1455+282_*1455+298del | ENSP00000503157.2:n.*1455+282_*1455+298del | |
| ENST00000682070.1:n.1737+282_1737+298del | ||
| ENST00000682539.1:c.97+282_97+298del | ||
| ENST00000682813.1:n.1537+282_1537+298del | ||
| ENST00000683392.1:n.4019+282_4019+298del | ||
| ENST00000683712.1:n.1677+282_1677+298del | ||
| ENST00000683900.1:n.3172+282_3172+298del | ||
| ENST00000684062.1:n.1938+282_1938+298del | ||
| ENST00000684579.1:n.3118+282_3118+298del | ||
| ENST00000341012.12:c.1110+282_1110+298del | ENSP00000343034.7:n.1110+282_1110+298del | |
| ENST00000372220.5:c.141+282_141+298del | ENSP00000361294.5:n.141+282_141+298del | |
| ENST00000372228.9:c.1338+282_1338+298del | ENSP00000361302.3:n.1338+282_1338+298del | |
| ENST00000402686.8:c.1272+282_1272+298del MANE Select | ENSP00000385797.4:n.1272+282_1272+298del | |
| ENST00000676640.1:c.1272+282_1272+298del | ENSP00000503281.1:n.1272+282_1272+298del | |
| ENST00000676803.1:c.447+282_447+298del | ENSP00000503093.1:n.447+282_447+298del | |
| ENST00000676835.1:c.*487+282_*487+298del | ENSP00000502911.1:n.*487+282_*487+298del | |
| ENST00000677029.1:c.816+282_816+298del | ENSP00000502936.1:n.816+282_816+298del | |
| ENST00000677099.1:c.*982+282_*982+298del | ENSP00000504553.1:n.*982+282_*982+298del | |
| ENST00000677216.1:c.921+282_921+298del | ENSP00000503772.1:n.921+282_921+298del | |
| ENST00000677295.1:c.*649+282_*649+298del | ENSP00000504346.1:n.*649+282_*649+298del | |
| ENST00000677444.1:c.1078+282_1078+298del | ||
| ENST00000677586.1:n.753+282_753+298del | ||
| ENST00000677626.1:c.921+282_921+298del | ENSP00000503552.1:n.921+282_921+298del | |
| ENST00000677677.1:n.1232+282_1232+298del | ||
| ENST00000677853.1:c.*280+282_*280+298del | ENSP00000503488.1:n.*280+282_*280+298del | |
| ENST00000677944.1:c.534+282_534+298del | ||
| ENST00000678264.1:c.*649+282_*649+298del | ENSP00000503157.1:n.*649+282_*649+298del | |
| ENST00000678303.1:c.1182+282_1182+298del | ENSP00000503696.1:n.1182+282_1182+298del | |
| ENST00000678366.1:c.*1521+282_*1521+298del | ENSP00000504353.1:n.*1521+282_*1521+298del | |
| ENST00000678546.1:c.*1217+282_*1217+298del | ENSP00000503062.1:n.*1217+282_*1217+298del | |
| ENST00000678548.1:c.*1344+282_*1344+298del | ENSP00000503934.1:n.*1344+282_*1344+298del | |
| ENST00000678626.1:n.969+282_969+298del | ||
| ENST00000678733.1:c.353+282_353+298del | ||
| ENST00000678739.1:c.*1598+282_*1598+298del | ENSP00000503806.1:n.*1598+282_*1598+298del | |
| ENST00000678795.1:n.359+282_359+298del | ||
| ENST00000678833.1:c.*719+282_*719+298del | ENSP00000503893.1:n.*719+282_*719+298del | |
| ENST00000678942.1:c.452+282_452+298del | ENSP00000504690.1:n.452+282_452+298del | |
| ENST00000679023.1:c.1110+282_1110+298del | ENSP00000503718.1:n.1110+282_1110+298del | |
| ENST00000679076.1:c.891+282_891+298del | ||
| ENST00000679111.1:c.1272+282_1272+298del | ENSP00000504257.1:n.1272+282_1272+298del | |
| ENST00000679189.1:c.921+282_921+298del | ENSP00000503356.1:n.921+282_921+298del | |
| ENST00000341012.11:c.1110+282_1110+298del | ENSP00000343034.7:n.1110+282_1110+298del | |
| ENST00000372228.7:c.1338+282_1338+298del | ENSP00000361302.3:n.1338+282_1338+298del | |
| ENST00000402686.7:c.1272+282_1272+298del | ENSP00000385797.3:n.1272+282_1272+298del | |
| ENST00000404875.6:c.921+282_921+298del | ENSP00000384531.2:n.921+282_921+298del | |
| ENST00000423007.5:c.1272+282_1272+298del | ENSP00000404119.1:n.1272+282_1272+298del | |
| ENST00000485278.5:n.1827+282_1827+298del | ||
| NM_001077365.1:c.1272+282_1272+298del | NP_001070833.1:n.1272+282_1272+298del | |
| NM_001077366.1:c.1110+282_1110+298del | NP_001070834.1:n.1110+282_1110+298del | |
| NM_001136113.1:c.1272+282_1272+298del | NP_001129585.1:n.1272+282_1272+298del | |
| NM_001136114.1:c.921+282_921+298del | NP_001129586.1:n.921+282_921+298del | |
| NM_007171.3:c.1338+282_1338+298del | NP_009102.3:n.1338+282_1338+298del | |
| XM_005272156.1:c.1338+282_1338+298del | XP_005272213.1:n.1338+282_1338+298del | |
| XM_005272158.1:c.1176+282_1176+298del | XP_005272215.1:n.1176+282_1176+298del | |
| XM_005272159.1:c.987+282_987+298del | XP_005272216.1:n.987+282_987+298del | |
| XM_005272162.1:c.141+282_141+298del | XP_005272219.1:n.141+282_141+298del | |
| XM_006716932.1:c.987+282_987+298del | XP_006716995.1:n.987+282_987+298del | |
| XM_011518140.1:c.1191+282_1191+298del | XP_011516442.1:n.1191+282_1191+298del | |
| XM_011518141.1:c.1125+282_1125+298del | XP_011516443.1:n.1125+282_1125+298del | |
| XM_011518142.1:c.1029+282_1029+298del | XP_011516444.1:n.1029+282_1029+298del | |
| XM_011518143.1:c.1023+282_1023+298del | XP_011516445.1:n.1023+282_1023+298del | |
| XM_011518144.1:c.1338+282_1338+298del | XP_011516446.1:n.1338+282_1338+298del | |
| XM_011518145.1:c.882+282_882+298del | XP_011516447.1:n.882+282_882+298del | |
| XM_011518146.1:c.1023+282_1023+298del | XP_011516448.1:n.1023+282_1023+298del | |
| XR_929703.1:n.1514+282_1514+298del | ||
| NM_001353193.1:c.1338+282_1338+298del | NP_001340122.1:n.1338+282_1338+298del | |
| NM_001353194.1:c.1110+282_1110+298del | NP_001340123.1:n.1110+282_1110+298del | |
| NM_001353195.1:c.921+282_921+298del | NP_001340124.1:n.921+282_921+298del | |
| NM_001353196.1:c.1182+282_1182+298del | NP_001340125.1:n.1182+282_1182+298del | |
| NM_001353197.1:c.1176+282_1176+298del | NP_001340126.1:n.1176+282_1176+298del | |
| NM_001353198.1:c.1176+282_1176+298del | NP_001340127.1:n.1176+282_1176+298del | |
| NM_001353199.1:c.987+282_987+298del | NP_001340128.1:n.987+282_987+298del | |
| NM_001353200.1:c.816+282_816+298del | NP_001340129.1:n.816+282_816+298del | |
| NR_148391.1:n.1322+282_1322+298del | ||
| NR_148392.1:n.1540+282_1540+298del | ||
| NR_148393.1:n.1322+282_1322+298del | ||
| NR_148394.1:n.1215+282_1215+298del | ||
| NR_148395.1:n.1474+282_1474+298del | ||
| NR_148396.1:n.1108+282_1108+298del | ||
| NR_148397.1:n.1372+282_1372+298del | ||
| NR_148398.1:n.1327+282_1327+298del | ||
| NR_148399.1:n.1714+282_1714+298del | ||
| NR_148400.1:n.1313+282_1313+298del | ||
| XM_005272162.3:c.141+282_141+298del | XP_005272219.1:n.141+282_141+298del | |
| XM_006716932.2:c.987+282_987+298del | XP_006716995.1:n.987+282_987+298del | |
| XM_011518140.2:c.1191+282_1191+298del | XP_011516442.1:n.1191+282_1191+298del | |
| XM_011518141.2:c.1125+282_1125+298del | XP_011516443.1:n.1125+282_1125+298del | |
| XM_011518142.2:c.1029+282_1029+298del | XP_011516444.1:n.1029+282_1029+298del | |
| XM_011518143.2:c.1023+282_1023+298del | XP_011516445.1:n.1023+282_1023+298del | |
| XM_011518145.2:c.882+282_882+298del | XP_011516447.1:n.882+282_882+298del | |
| XM_017014205.2:c.141+282_141+298del | XP_016869694.1:n.141+282_141+298del | |
| XM_024447380.1:c.141+282_141+298del | XP_024303148.1:n.141+282_141+298del | |
| XM_024447381.1:c.447+282_447+298del | XP_024303149.1:n.447+282_447+298del | |
| XM_024447382.1:c.141+282_141+298del | XP_024303150.1:n.141+282_141+298del | |
| XR_001746160.2:n.1442+282_1442+298del | ||
| XR_001746162.2:n.1508+282_1508+298del | ||
| XR_001746164.1:n.1225+282_1225+298del | ||
| XR_001746166.2:n.1659+282_1659+298del | ||
| NM_001077365.2:c.1272+282_1272+298del MANE Select | NP_001070833.1:n.1272+282_1272+298del | |
| NM_001077366.2:c.1110+282_1110+298del | NP_001070834.1:n.1110+282_1110+298del | |
| NM_001136113.2:c.1272+282_1272+298del | NP_001129585.1:n.1272+282_1272+298del | |
| NM_001136114.2:c.921+282_921+298del | NP_001129586.1:n.921+282_921+298del | |
| NM_001353193.2:c.1338+282_1338+298del | NP_001340122.2:n.1338+282_1338+298del | |
| NM_001353194.2:c.1110+282_1110+298del | NP_001340123.1:n.1110+282_1110+298del | |
| NM_001353195.2:c.921+282_921+298del | NP_001340124.1:n.921+282_921+298del | |
| NM_001353196.2:c.1182+282_1182+298del | NP_001340125.1:n.1182+282_1182+298del | |
| NM_001353197.2:c.1176+282_1176+298del | NP_001340126.2:n.1176+282_1176+298del | |
| NM_001353198.2:c.1176+282_1176+298del | NP_001340127.2:n.1176+282_1176+298del | |
| NM_001353199.2:c.987+282_987+298del | NP_001340128.2:n.987+282_987+298del | |
| NM_001353200.2:c.816+282_816+298del | NP_001340129.1:n.816+282_816+298del | |
| NM_001374689.1:c.1260+282_1260+298del | NP_001361618.1:n.1260+282_1260+298del | |
| NM_001374690.1:c.1272+282_1272+298del | NP_001361619.1:n.1272+282_1272+298del | |
| NM_001374691.1:c.921+282_921+298del | NP_001361620.1:n.921+282_921+298del | |
| NM_001374692.1:c.921+282_921+298del | NP_001361621.1:n.921+282_921+298del | |
| NM_001374693.1:c.921+282_921+298del | NP_001361622.1:n.921+282_921+298del | |
| NM_001374695.1:c.882+282_882+298del | NP_001361624.1:n.882+282_882+298del | |
| NM_007171.4:c.1338+282_1338+298del | NP_009102.4:n.1338+282_1338+298del | |
| NR_148391.2:n.1306+282_1306+298del | ||
| NR_148392.2:n.1524+282_1524+298del | ||
| NR_148393.2:n.1306+282_1306+298del | ||
| NR_148394.2:n.1199+282_1199+298del | ||
| NR_148395.2:n.1458+282_1458+298del | ||
| NR_148396.2:n.1092+282_1092+298del | ||
| NR_148397.2:n.1356+282_1356+298del | ||
| NR_148398.2:n.1311+282_1311+298del | ||
| NR_148399.2:n.1698+282_1698+298del | ||
| NR_148400.2:n.1297+282_1297+298del |