Linked Data
dbSNP Id:
rs1564366858
gnomAD v2:
9-134391170-TGTAA-T
gnomAD v3:
9-131515783-TGTAA-T
gnomAD v4:
9-131515783-TGTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515784_131515787del , CM000671.2:g.131515784_131515787del | GRCh38 |
| NC_000009.11:g.134391171_134391174del , CM000671.1:g.134391171_134391174del | GRCh37 |
| NC_000009.10:g.133380992_133380995del | NCBI36 |
| NG_008896.1:g.17883_17886del | |
| NG_008896.2:g.17883_17886del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+262_1110+265del | ENSP00000343034.7:n.1110+262_1110+265del | |
| ENST00000404875.7:n.1812+262_1812+265del | ||
| ENST00000423007.6:c.1329+262_1329+265del | ENSP00000404119.2:n.1329+262_1329+265del | |
| ENST00000677295.2:c.*1616+262_*1616+265del | ENSP00000504346.2:n.*1616+262_*1616+265del | |
| ENST00000678264.2:c.*1455+262_*1455+265del | ENSP00000503157.2:n.*1455+262_*1455+265del | |
| ENST00000682070.1:n.1737+262_1737+265del | ||
| ENST00000682539.1:c.97+262_97+265del | ||
| ENST00000682813.1:n.1537+262_1537+265del | ||
| ENST00000683392.1:n.4019+262_4019+265del | ||
| ENST00000683712.1:n.1677+262_1677+265del | ||
| ENST00000683900.1:n.3172+262_3172+265del | ||
| ENST00000684062.1:n.1938+262_1938+265del | ||
| ENST00000684579.1:n.3118+262_3118+265del | ||
| ENST00000341012.12:c.1110+262_1110+265del | ENSP00000343034.7:n.1110+262_1110+265del | |
| ENST00000372220.5:c.141+262_141+265del | ENSP00000361294.5:n.141+262_141+265del | |
| ENST00000372228.9:c.1338+262_1338+265del | ENSP00000361302.3:n.1338+262_1338+265del | |
| ENST00000402686.8:c.1272+262_1272+265del MANE Select | ENSP00000385797.4:n.1272+262_1272+265del | |
| ENST00000676640.1:c.1272+262_1272+265del | ENSP00000503281.1:n.1272+262_1272+265del | |
| ENST00000676803.1:c.447+262_447+265del | ENSP00000503093.1:n.447+262_447+265del | |
| ENST00000676835.1:c.*487+262_*487+265del | ENSP00000502911.1:n.*487+262_*487+265del | |
| ENST00000677029.1:c.816+262_816+265del | ENSP00000502936.1:n.816+262_816+265del | |
| ENST00000677099.1:c.*982+262_*982+265del | ENSP00000504553.1:n.*982+262_*982+265del | |
| ENST00000677216.1:c.921+262_921+265del | ENSP00000503772.1:n.921+262_921+265del | |
| ENST00000677295.1:c.*649+262_*649+265del | ENSP00000504346.1:n.*649+262_*649+265del | |
| ENST00000677444.1:c.1078+262_1078+265del | ||
| ENST00000677586.1:n.753+262_753+265del | ||
| ENST00000677626.1:c.921+262_921+265del | ENSP00000503552.1:n.921+262_921+265del | |
| ENST00000677677.1:n.1232+262_1232+265del | ||
| ENST00000677853.1:c.*280+262_*280+265del | ENSP00000503488.1:n.*280+262_*280+265del | |
| ENST00000677944.1:c.534+262_534+265del | ||
| ENST00000678264.1:c.*649+262_*649+265del | ENSP00000503157.1:n.*649+262_*649+265del | |
| ENST00000678303.1:c.1182+262_1182+265del | ENSP00000503696.1:n.1182+262_1182+265del | |
| ENST00000678366.1:c.*1521+262_*1521+265del | ENSP00000504353.1:n.*1521+262_*1521+265del | |
| ENST00000678546.1:c.*1217+262_*1217+265del | ENSP00000503062.1:n.*1217+262_*1217+265del | |
| ENST00000678548.1:c.*1344+262_*1344+265del | ENSP00000503934.1:n.*1344+262_*1344+265del | |
| ENST00000678626.1:n.969+262_969+265del | ||
| ENST00000678733.1:c.353+262_353+265del | ||
| ENST00000678739.1:c.*1598+262_*1598+265del | ENSP00000503806.1:n.*1598+262_*1598+265del | |
| ENST00000678795.1:n.359+262_359+265del | ||
| ENST00000678833.1:c.*719+262_*719+265del | ENSP00000503893.1:n.*719+262_*719+265del | |
| ENST00000678942.1:c.452+262_452+265del | ENSP00000504690.1:n.452+262_452+265del | |
| ENST00000679023.1:c.1110+262_1110+265del | ENSP00000503718.1:n.1110+262_1110+265del | |
| ENST00000679076.1:c.891+262_891+265del | ||
| ENST00000679111.1:c.1272+262_1272+265del | ENSP00000504257.1:n.1272+262_1272+265del | |
| ENST00000679189.1:c.921+262_921+265del | ENSP00000503356.1:n.921+262_921+265del | |
| ENST00000341012.11:c.1110+262_1110+265del | ENSP00000343034.7:n.1110+262_1110+265del | |
| ENST00000372228.7:c.1338+262_1338+265del | ENSP00000361302.3:n.1338+262_1338+265del | |
| ENST00000402686.7:c.1272+262_1272+265del | ENSP00000385797.3:n.1272+262_1272+265del | |
| ENST00000404875.6:c.921+262_921+265del | ENSP00000384531.2:n.921+262_921+265del | |
| ENST00000423007.5:c.1272+262_1272+265del | ENSP00000404119.1:n.1272+262_1272+265del | |
| ENST00000485278.5:n.1827+262_1827+265del | ||
| NM_001077365.1:c.1272+262_1272+265del | NP_001070833.1:n.1272+262_1272+265del | |
| NM_001077366.1:c.1110+262_1110+265del | NP_001070834.1:n.1110+262_1110+265del | |
| NM_001136113.1:c.1272+262_1272+265del | NP_001129585.1:n.1272+262_1272+265del | |
| NM_001136114.1:c.921+262_921+265del | NP_001129586.1:n.921+262_921+265del | |
| NM_007171.3:c.1338+262_1338+265del | NP_009102.3:n.1338+262_1338+265del | |
| XM_005272156.1:c.1338+262_1338+265del | XP_005272213.1:n.1338+262_1338+265del | |
| XM_005272158.1:c.1176+262_1176+265del | XP_005272215.1:n.1176+262_1176+265del | |
| XM_005272159.1:c.987+262_987+265del | XP_005272216.1:n.987+262_987+265del | |
| XM_005272162.1:c.141+262_141+265del | XP_005272219.1:n.141+262_141+265del | |
| XM_006716932.1:c.987+262_987+265del | XP_006716995.1:n.987+262_987+265del | |
| XM_011518140.1:c.1191+262_1191+265del | XP_011516442.1:n.1191+262_1191+265del | |
| XM_011518141.1:c.1125+262_1125+265del | XP_011516443.1:n.1125+262_1125+265del | |
| XM_011518142.1:c.1029+262_1029+265del | XP_011516444.1:n.1029+262_1029+265del | |
| XM_011518143.1:c.1023+262_1023+265del | XP_011516445.1:n.1023+262_1023+265del | |
| XM_011518144.1:c.1338+262_1338+265del | XP_011516446.1:n.1338+262_1338+265del | |
| XM_011518145.1:c.882+262_882+265del | XP_011516447.1:n.882+262_882+265del | |
| XM_011518146.1:c.1023+262_1023+265del | XP_011516448.1:n.1023+262_1023+265del | |
| XR_929703.1:n.1514+262_1514+265del | ||
| NM_001353193.1:c.1338+262_1338+265del | NP_001340122.1:n.1338+262_1338+265del | |
| NM_001353194.1:c.1110+262_1110+265del | NP_001340123.1:n.1110+262_1110+265del | |
| NM_001353195.1:c.921+262_921+265del | NP_001340124.1:n.921+262_921+265del | |
| NM_001353196.1:c.1182+262_1182+265del | NP_001340125.1:n.1182+262_1182+265del | |
| NM_001353197.1:c.1176+262_1176+265del | NP_001340126.1:n.1176+262_1176+265del | |
| NM_001353198.1:c.1176+262_1176+265del | NP_001340127.1:n.1176+262_1176+265del | |
| NM_001353199.1:c.987+262_987+265del | NP_001340128.1:n.987+262_987+265del | |
| NM_001353200.1:c.816+262_816+265del | NP_001340129.1:n.816+262_816+265del | |
| NR_148391.1:n.1322+262_1322+265del | ||
| NR_148392.1:n.1540+262_1540+265del | ||
| NR_148393.1:n.1322+262_1322+265del | ||
| NR_148394.1:n.1215+262_1215+265del | ||
| NR_148395.1:n.1474+262_1474+265del | ||
| NR_148396.1:n.1108+262_1108+265del | ||
| NR_148397.1:n.1372+262_1372+265del | ||
| NR_148398.1:n.1327+262_1327+265del | ||
| NR_148399.1:n.1714+262_1714+265del | ||
| NR_148400.1:n.1313+262_1313+265del | ||
| XM_005272162.3:c.141+262_141+265del | XP_005272219.1:n.141+262_141+265del | |
| XM_006716932.2:c.987+262_987+265del | XP_006716995.1:n.987+262_987+265del | |
| XM_011518140.2:c.1191+262_1191+265del | XP_011516442.1:n.1191+262_1191+265del | |
| XM_011518141.2:c.1125+262_1125+265del | XP_011516443.1:n.1125+262_1125+265del | |
| XM_011518142.2:c.1029+262_1029+265del | XP_011516444.1:n.1029+262_1029+265del | |
| XM_011518143.2:c.1023+262_1023+265del | XP_011516445.1:n.1023+262_1023+265del | |
| XM_011518145.2:c.882+262_882+265del | XP_011516447.1:n.882+262_882+265del | |
| XM_017014205.2:c.141+262_141+265del | XP_016869694.1:n.141+262_141+265del | |
| XM_024447380.1:c.141+262_141+265del | XP_024303148.1:n.141+262_141+265del | |
| XM_024447381.1:c.447+262_447+265del | XP_024303149.1:n.447+262_447+265del | |
| XM_024447382.1:c.141+262_141+265del | XP_024303150.1:n.141+262_141+265del | |
| XR_001746160.2:n.1442+262_1442+265del | ||
| XR_001746162.2:n.1508+262_1508+265del | ||
| XR_001746164.1:n.1225+262_1225+265del | ||
| XR_001746166.2:n.1659+262_1659+265del | ||
| NM_001077365.2:c.1272+262_1272+265del MANE Select | NP_001070833.1:n.1272+262_1272+265del | |
| NM_001077366.2:c.1110+262_1110+265del | NP_001070834.1:n.1110+262_1110+265del | |
| NM_001136113.2:c.1272+262_1272+265del | NP_001129585.1:n.1272+262_1272+265del | |
| NM_001136114.2:c.921+262_921+265del | NP_001129586.1:n.921+262_921+265del | |
| NM_001353193.2:c.1338+262_1338+265del | NP_001340122.2:n.1338+262_1338+265del | |
| NM_001353194.2:c.1110+262_1110+265del | NP_001340123.1:n.1110+262_1110+265del | |
| NM_001353195.2:c.921+262_921+265del | NP_001340124.1:n.921+262_921+265del | |
| NM_001353196.2:c.1182+262_1182+265del | NP_001340125.1:n.1182+262_1182+265del | |
| NM_001353197.2:c.1176+262_1176+265del | NP_001340126.2:n.1176+262_1176+265del | |
| NM_001353198.2:c.1176+262_1176+265del | NP_001340127.2:n.1176+262_1176+265del | |
| NM_001353199.2:c.987+262_987+265del | NP_001340128.2:n.987+262_987+265del | |
| NM_001353200.2:c.816+262_816+265del | NP_001340129.1:n.816+262_816+265del | |
| NM_001374689.1:c.1260+262_1260+265del | NP_001361618.1:n.1260+262_1260+265del | |
| NM_001374690.1:c.1272+262_1272+265del | NP_001361619.1:n.1272+262_1272+265del | |
| NM_001374691.1:c.921+262_921+265del | NP_001361620.1:n.921+262_921+265del | |
| NM_001374692.1:c.921+262_921+265del | NP_001361621.1:n.921+262_921+265del | |
| NM_001374693.1:c.921+262_921+265del | NP_001361622.1:n.921+262_921+265del | |
| NM_001374695.1:c.882+262_882+265del | NP_001361624.1:n.882+262_882+265del | |
| NM_007171.4:c.1338+262_1338+265del | NP_009102.4:n.1338+262_1338+265del | |
| NR_148391.2:n.1306+262_1306+265del | ||
| NR_148392.2:n.1524+262_1524+265del | ||
| NR_148393.2:n.1306+262_1306+265del | ||
| NR_148394.2:n.1199+262_1199+265del | ||
| NR_148395.2:n.1458+262_1458+265del | ||
| NR_148396.2:n.1092+262_1092+265del | ||
| NR_148397.2:n.1356+262_1356+265del | ||
| NR_148398.2:n.1311+262_1311+265del | ||
| NR_148399.2:n.1698+262_1698+265del | ||
| NR_148400.2:n.1297+262_1297+265del |