Linked Data
gnomAD v3:
9-131515683-ACAGGACACTTCCTCACACG-A
gnomAD v4:
9-131515683-ACAGGACACTTCCTCACACG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515684_131515702del , CM000671.2:g.131515684_131515702del | GRCh38 |
| NC_000009.11:g.134391071_134391089del , CM000671.1:g.134391071_134391089del | GRCh37 |
| NC_000009.10:g.133380892_133380910del | NCBI36 |
| NG_008896.1:g.17783_17801del | |
| NG_008896.2:g.17783_17801del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+162_1110+180del | ENSP00000343034.7:n.1110+162_1110+180del | |
| ENST00000404875.7:n.1812+162_1812+180del | ||
| ENST00000423007.6:c.1329+162_1329+180del | ENSP00000404119.2:n.1329+162_1329+180del | |
| ENST00000677295.2:c.*1616+162_*1616+180del | ENSP00000504346.2:n.*1616+162_*1616+180del | |
| ENST00000678264.2:c.*1455+162_*1455+180del | ENSP00000503157.2:n.*1455+162_*1455+180del | |
| ENST00000682070.1:n.1737+162_1737+180del | ||
| ENST00000682539.1:c.97+162_97+180del | ||
| ENST00000682813.1:n.1537+162_1537+180del | ||
| ENST00000683392.1:n.4019+162_4019+180del | ||
| ENST00000683712.1:n.1677+162_1677+180del | ||
| ENST00000683900.1:n.3172+162_3172+180del | ||
| ENST00000684062.1:n.1938+162_1938+180del | ||
| ENST00000684579.1:n.3118+162_3118+180del | ||
| ENST00000341012.12:c.1110+162_1110+180del | ENSP00000343034.7:n.1110+162_1110+180del | |
| ENST00000372220.5:c.141+162_141+180del | ENSP00000361294.5:n.141+162_141+180del | |
| ENST00000372228.9:c.1338+162_1338+180del | ENSP00000361302.3:n.1338+162_1338+180del | |
| ENST00000402686.8:c.1272+162_1272+180del MANE Select | ENSP00000385797.4:n.1272+162_1272+180del | |
| ENST00000676640.1:c.1272+162_1272+180del | ENSP00000503281.1:n.1272+162_1272+180del | |
| ENST00000676803.1:c.447+162_447+180del | ENSP00000503093.1:n.447+162_447+180del | |
| ENST00000676835.1:c.*487+162_*487+180del | ENSP00000502911.1:n.*487+162_*487+180del | |
| ENST00000677029.1:c.816+162_816+180del | ENSP00000502936.1:n.816+162_816+180del | |
| ENST00000677099.1:c.*982+162_*982+180del | ENSP00000504553.1:n.*982+162_*982+180del | |
| ENST00000677216.1:c.921+162_921+180del | ENSP00000503772.1:n.921+162_921+180del | |
| ENST00000677295.1:c.*649+162_*649+180del | ENSP00000504346.1:n.*649+162_*649+180del | |
| ENST00000677444.1:c.1078+162_1078+180del | ||
| ENST00000677586.1:n.753+162_753+180del | ||
| ENST00000677626.1:c.921+162_921+180del | ENSP00000503552.1:n.921+162_921+180del | |
| ENST00000677677.1:n.1232+162_1232+180del | ||
| ENST00000677853.1:c.*280+162_*280+180del | ENSP00000503488.1:n.*280+162_*280+180del | |
| ENST00000677944.1:c.534+162_534+180del | ||
| ENST00000678264.1:c.*649+162_*649+180del | ENSP00000503157.1:n.*649+162_*649+180del | |
| ENST00000678303.1:c.1182+162_1182+180del | ENSP00000503696.1:n.1182+162_1182+180del | |
| ENST00000678366.1:c.*1521+162_*1521+180del | ENSP00000504353.1:n.*1521+162_*1521+180del | |
| ENST00000678546.1:c.*1217+162_*1217+180del | ENSP00000503062.1:n.*1217+162_*1217+180del | |
| ENST00000678548.1:c.*1344+162_*1344+180del | ENSP00000503934.1:n.*1344+162_*1344+180del | |
| ENST00000678626.1:n.969+162_969+180del | ||
| ENST00000678733.1:c.353+162_353+180del | ||
| ENST00000678739.1:c.*1598+162_*1598+180del | ENSP00000503806.1:n.*1598+162_*1598+180del | |
| ENST00000678795.1:n.359+162_359+180del | ||
| ENST00000678833.1:c.*719+162_*719+180del | ENSP00000503893.1:n.*719+162_*719+180del | |
| ENST00000678942.1:c.452+162_452+180del | ENSP00000504690.1:n.452+162_452+180del | |
| ENST00000679023.1:c.1110+162_1110+180del | ENSP00000503718.1:n.1110+162_1110+180del | |
| ENST00000679076.1:c.891+162_891+180del | ||
| ENST00000679111.1:c.1272+162_1272+180del | ENSP00000504257.1:n.1272+162_1272+180del | |
| ENST00000679189.1:c.921+162_921+180del | ENSP00000503356.1:n.921+162_921+180del | |
| ENST00000341012.11:c.1110+162_1110+180del | ENSP00000343034.7:n.1110+162_1110+180del | |
| ENST00000372228.7:c.1338+162_1338+180del | ENSP00000361302.3:n.1338+162_1338+180del | |
| ENST00000402686.7:c.1272+162_1272+180del | ENSP00000385797.3:n.1272+162_1272+180del | |
| ENST00000404875.6:c.921+162_921+180del | ENSP00000384531.2:n.921+162_921+180del | |
| ENST00000423007.5:c.1272+162_1272+180del | ENSP00000404119.1:n.1272+162_1272+180del | |
| ENST00000485278.5:n.1827+162_1827+180del | ||
| NM_001077365.1:c.1272+162_1272+180del | NP_001070833.1:n.1272+162_1272+180del | |
| NM_001077366.1:c.1110+162_1110+180del | NP_001070834.1:n.1110+162_1110+180del | |
| NM_001136113.1:c.1272+162_1272+180del | NP_001129585.1:n.1272+162_1272+180del | |
| NM_001136114.1:c.921+162_921+180del | NP_001129586.1:n.921+162_921+180del | |
| NM_007171.3:c.1338+162_1338+180del | NP_009102.3:n.1338+162_1338+180del | |
| XM_005272156.1:c.1338+162_1338+180del | XP_005272213.1:n.1338+162_1338+180del | |
| XM_005272158.1:c.1176+162_1176+180del | XP_005272215.1:n.1176+162_1176+180del | |
| XM_005272159.1:c.987+162_987+180del | XP_005272216.1:n.987+162_987+180del | |
| XM_005272162.1:c.141+162_141+180del | XP_005272219.1:n.141+162_141+180del | |
| XM_006716932.1:c.987+162_987+180del | XP_006716995.1:n.987+162_987+180del | |
| XM_011518140.1:c.1191+162_1191+180del | XP_011516442.1:n.1191+162_1191+180del | |
| XM_011518141.1:c.1125+162_1125+180del | XP_011516443.1:n.1125+162_1125+180del | |
| XM_011518142.1:c.1029+162_1029+180del | XP_011516444.1:n.1029+162_1029+180del | |
| XM_011518143.1:c.1023+162_1023+180del | XP_011516445.1:n.1023+162_1023+180del | |
| XM_011518144.1:c.1338+162_1338+180del | XP_011516446.1:n.1338+162_1338+180del | |
| XM_011518145.1:c.882+162_882+180del | XP_011516447.1:n.882+162_882+180del | |
| XM_011518146.1:c.1023+162_1023+180del | XP_011516448.1:n.1023+162_1023+180del | |
| XR_929703.1:n.1514+162_1514+180del | ||
| NM_001353193.1:c.1338+162_1338+180del | NP_001340122.1:n.1338+162_1338+180del | |
| NM_001353194.1:c.1110+162_1110+180del | NP_001340123.1:n.1110+162_1110+180del | |
| NM_001353195.1:c.921+162_921+180del | NP_001340124.1:n.921+162_921+180del | |
| NM_001353196.1:c.1182+162_1182+180del | NP_001340125.1:n.1182+162_1182+180del | |
| NM_001353197.1:c.1176+162_1176+180del | NP_001340126.1:n.1176+162_1176+180del | |
| NM_001353198.1:c.1176+162_1176+180del | NP_001340127.1:n.1176+162_1176+180del | |
| NM_001353199.1:c.987+162_987+180del | NP_001340128.1:n.987+162_987+180del | |
| NM_001353200.1:c.816+162_816+180del | NP_001340129.1:n.816+162_816+180del | |
| NR_148391.1:n.1322+162_1322+180del | ||
| NR_148392.1:n.1540+162_1540+180del | ||
| NR_148393.1:n.1322+162_1322+180del | ||
| NR_148394.1:n.1215+162_1215+180del | ||
| NR_148395.1:n.1474+162_1474+180del | ||
| NR_148396.1:n.1108+162_1108+180del | ||
| NR_148397.1:n.1372+162_1372+180del | ||
| NR_148398.1:n.1327+162_1327+180del | ||
| NR_148399.1:n.1714+162_1714+180del | ||
| NR_148400.1:n.1313+162_1313+180del | ||
| XM_005272162.3:c.141+162_141+180del | XP_005272219.1:n.141+162_141+180del | |
| XM_006716932.2:c.987+162_987+180del | XP_006716995.1:n.987+162_987+180del | |
| XM_011518140.2:c.1191+162_1191+180del | XP_011516442.1:n.1191+162_1191+180del | |
| XM_011518141.2:c.1125+162_1125+180del | XP_011516443.1:n.1125+162_1125+180del | |
| XM_011518142.2:c.1029+162_1029+180del | XP_011516444.1:n.1029+162_1029+180del | |
| XM_011518143.2:c.1023+162_1023+180del | XP_011516445.1:n.1023+162_1023+180del | |
| XM_011518145.2:c.882+162_882+180del | XP_011516447.1:n.882+162_882+180del | |
| XM_017014205.2:c.141+162_141+180del | XP_016869694.1:n.141+162_141+180del | |
| XM_024447380.1:c.141+162_141+180del | XP_024303148.1:n.141+162_141+180del | |
| XM_024447381.1:c.447+162_447+180del | XP_024303149.1:n.447+162_447+180del | |
| XM_024447382.1:c.141+162_141+180del | XP_024303150.1:n.141+162_141+180del | |
| XR_001746160.2:n.1442+162_1442+180del | ||
| XR_001746162.2:n.1508+162_1508+180del | ||
| XR_001746164.1:n.1225+162_1225+180del | ||
| XR_001746166.2:n.1659+162_1659+180del | ||
| NM_001077365.2:c.1272+162_1272+180del MANE Select | NP_001070833.1:n.1272+162_1272+180del | |
| NM_001077366.2:c.1110+162_1110+180del | NP_001070834.1:n.1110+162_1110+180del | |
| NM_001136113.2:c.1272+162_1272+180del | NP_001129585.1:n.1272+162_1272+180del | |
| NM_001136114.2:c.921+162_921+180del | NP_001129586.1:n.921+162_921+180del | |
| NM_001353193.2:c.1338+162_1338+180del | NP_001340122.2:n.1338+162_1338+180del | |
| NM_001353194.2:c.1110+162_1110+180del | NP_001340123.1:n.1110+162_1110+180del | |
| NM_001353195.2:c.921+162_921+180del | NP_001340124.1:n.921+162_921+180del | |
| NM_001353196.2:c.1182+162_1182+180del | NP_001340125.1:n.1182+162_1182+180del | |
| NM_001353197.2:c.1176+162_1176+180del | NP_001340126.2:n.1176+162_1176+180del | |
| NM_001353198.2:c.1176+162_1176+180del | NP_001340127.2:n.1176+162_1176+180del | |
| NM_001353199.2:c.987+162_987+180del | NP_001340128.2:n.987+162_987+180del | |
| NM_001353200.2:c.816+162_816+180del | NP_001340129.1:n.816+162_816+180del | |
| NM_001374689.1:c.1260+162_1260+180del | NP_001361618.1:n.1260+162_1260+180del | |
| NM_001374690.1:c.1272+162_1272+180del | NP_001361619.1:n.1272+162_1272+180del | |
| NM_001374691.1:c.921+162_921+180del | NP_001361620.1:n.921+162_921+180del | |
| NM_001374692.1:c.921+162_921+180del | NP_001361621.1:n.921+162_921+180del | |
| NM_001374693.1:c.921+162_921+180del | NP_001361622.1:n.921+162_921+180del | |
| NM_001374695.1:c.882+162_882+180del | NP_001361624.1:n.882+162_882+180del | |
| NM_007171.4:c.1338+162_1338+180del | NP_009102.4:n.1338+162_1338+180del | |
| NR_148391.2:n.1306+162_1306+180del | ||
| NR_148392.2:n.1524+162_1524+180del | ||
| NR_148393.2:n.1306+162_1306+180del | ||
| NR_148394.2:n.1199+162_1199+180del | ||
| NR_148395.2:n.1458+162_1458+180del | ||
| NR_148396.2:n.1092+162_1092+180del | ||
| NR_148397.2:n.1356+162_1356+180del | ||
| NR_148398.2:n.1311+162_1311+180del | ||
| NR_148399.2:n.1698+162_1698+180del | ||
| NR_148400.2:n.1297+162_1297+180del |