Linked Data
ClinVar Variation Id:
1453137
ClinVar RCV Id:
RCV002037840
dbSNP Id:
rs1472946513
gnomAD v4:
9-131518533-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518536del , CM000671.2:g.131518536del | GRCh38 |
| NC_000009.11:g.134393923del , CM000671.1:g.134393923del | GRCh37 |
| NC_000009.10:g.133383744del | NCBI36 |
| NG_008896.1:g.20635del | |
| NG_008896.2:g.20635del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1202del | ENSP00000343034.7:p.Lys401SerfsTer2 | |
| ENST00000404875.7:n.1904del | ||
| ENST00000423007.6:c.1421del | ENSP00000404119.2:p.Lys474SerfsTer2 | |
| ENST00000677295.2:c.*1708del | ENSP00000504346.2:n.*1708del | |
| ENST00000678264.2:c.*1547del | ENSP00000503157.2:n.*1547del | |
| ENST00000682070.1:n.1829del | ||
| ENST00000682535.1:n.136del | ||
| ENST00000682539.1:c.302del | ||
| ENST00000682813.1:n.1629del | ||
| ENST00000683110.1:n.92del | ||
| ENST00000683392.1:n.4111del | ||
| ENST00000683712.1:n.1769del | ||
| ENST00000683900.1:n.3264del | ||
| ENST00000684062.1:n.2030del | ||
| ENST00000684579.1:n.3210del | ||
| ENST00000684679.1:n.591del | ||
| ENST00000341012.12:c.1202del | ENSP00000343034.7:p.Lys401SerfsTer2 | |
| ENST00000372220.5:c.233del | ENSP00000361294.5:p.Lys78SerfsTer2 | |
| ENST00000372228.9:c.1430del | ENSP00000361302.3:p.Lys477SerfsTer2 | |
| ENST00000402686.8:c.1364del MANE Select | ENSP00000385797.4:p.Lys455SerfsTer2 | |
| ENST00000676640.1:c.1364del | ENSP00000503281.1:p.Lys455SerfsTer2 | |
| ENST00000676803.1:c.539del | ENSP00000503093.1:p.Lys180SerfsTer2 | |
| ENST00000676835.1:c.*579del | ENSP00000502911.1:n.*579del | |
| ENST00000677029.1:c.908del | ENSP00000502936.1:p.Lys303SerfsTer2 | |
| ENST00000677099.1:c.*1074del | ENSP00000504553.1:n.*1074del | |
| ENST00000677216.1:c.1013del | ENSP00000503772.1:p.Lys338SerfsTer2 | |
| ENST00000677221.1:n.389del | ||
| ENST00000677295.1:c.*741del | ENSP00000504346.1:n.*741del | |
| ENST00000677444.1:c.1170del | ||
| ENST00000677586.1:n.845del | ||
| ENST00000677626.1:c.1013del | ENSP00000503552.1:p.Lys338SerfsTer2 | |
| ENST00000677677.1:n.1324del | ||
| ENST00000677853.1:c.*372del | ENSP00000503488.1:n.*372del | |
| ENST00000677983.1:n.453del | ||
| ENST00000678202.1:n.384del | ||
| ENST00000678264.1:c.*741del | ENSP00000503157.1:n.*741del | |
| ENST00000678303.1:c.1274del | ENSP00000503696.1:p.Lys425SerfsTer2 | |
| ENST00000678366.1:c.*1613del | ENSP00000504353.1:n.*1613del | |
| ENST00000678546.1:c.*1309del | ENSP00000503062.1:n.*1309del | |
| ENST00000678548.1:c.*1436del | ENSP00000503934.1:n.*1436del | |
| ENST00000678626.1:n.1061del | ||
| ENST00000678733.1:c.445del | ||
| ENST00000678739.1:c.*1690del | ENSP00000503806.1:n.*1690del | |
| ENST00000678795.1:n.451del | ||
| ENST00000678833.1:c.*811del | ENSP00000503893.1:n.*811del | |
| ENST00000678942.1:c.544del | ENSP00000504690.1:n.544del | |
| ENST00000679023.1:c.1202del | ENSP00000503718.1:p.Lys401SerfsTer2 | |
| ENST00000679076.1:c.983del | ||
| ENST00000679111.1:c.1364del | ENSP00000504257.1:p.Lys455ArgfsTer15 | |
| ENST00000679189.1:c.1013del | ENSP00000503356.1:p.Lys338SerfsTer2 | |
| ENST00000341012.11:c.1202del | ENSP00000343034.7:p.Lys401SerfsTer2 | |
| ENST00000372220.4:c.227del | ENSP00000361294.4:p.Lys76SerfsTer2 | |
| ENST00000372228.7:c.1430del | ENSP00000361302.3:p.Lys477SerfsTer2 | |
| ENST00000402686.7:c.1364del | ENSP00000385797.3:p.Lys455SerfsTer2 | |
| ENST00000404875.6:c.1013del | ENSP00000384531.2:p.Lys338SerfsTer2 | |
| ENST00000423007.5:c.1364del | ENSP00000404119.1:p.Lys455SerfsTer2 | |
| ENST00000485278.5:n.1919del | ||
| NM_001077365.1:c.1364del | NP_001070833.1:p.Lys455SerfsTer2 | |
| NM_001077366.1:c.1202del | NP_001070834.1:p.Lys401SerfsTer2 | |
| NM_001136113.1:c.1364del | NP_001129585.1:p.Lys455SerfsTer2 | |
| NM_001136114.1:c.1013del | NP_001129586.1:p.Lys338SerfsTer2 | |
| NM_007171.3:c.1430del | NP_009102.3:p.Lys477SerfsTer2 | |
| XM_005272156.1:c.1430del | XP_005272213.1:p.Lys477SerfsTer2 | |
| XM_005272158.1:c.1268del | XP_005272215.1:p.Lys423SerfsTer2 | |
| XM_005272159.1:c.1079del | XP_005272216.1:p.Lys360SerfsTer2 | |
| XM_005272162.1:c.233del | XP_005272219.1:p.Lys78SerfsTer2 | |
| XM_006716932.1:c.1079del | XP_006716995.1:p.Lys360SerfsTer2 | |
| XM_011518140.1:c.1283del | XP_011516442.1:p.Lys428SerfsTer2 | |
| XM_011518141.1:c.1217del | XP_011516443.1:p.Lys406SerfsTer2 | |
| XM_011518142.1:c.1121del | XP_011516444.1:p.Lys374SerfsTer2 | |
| XM_011518143.1:c.1115del | XP_011516445.1:p.Lys372SerfsTer2 | |
| XM_011518144.1:c.1430del | XP_011516446.1:p.Lys477ArgfsTer15 | |
| XM_011518145.1:c.974del | XP_011516447.1:p.Lys325SerfsTer2 | |
| XM_011518146.1:c.1115del | XP_011516448.1:p.Lys372ArgfsTer15 | |
| XM_011518147.1:c.302del | XP_011516449.1:p.Lys101SerfsTer2 | |
| XR_929703.1:n.1606del | ||
| NM_001353193.1:c.1430del | NP_001340122.1:p.Lys477SerfsTer2 | |
| NM_001353194.1:c.1202del | NP_001340123.1:p.Lys401SerfsTer2 | |
| NM_001353195.1:c.1013del | NP_001340124.1:p.Lys338SerfsTer2 | |
| NM_001353196.1:c.1274del | NP_001340125.1:p.Lys425SerfsTer2 | |
| NM_001353197.1:c.1268del | NP_001340126.1:p.Lys423SerfsTer2 | |
| NM_001353198.1:c.1268del | NP_001340127.1:p.Lys423SerfsTer2 | |
| NM_001353199.1:c.1079del | NP_001340128.1:p.Lys360SerfsTer2 | |
| NM_001353200.1:c.908del | NP_001340129.1:p.Lys303SerfsTer2 | |
| NR_148391.1:n.1414del | ||
| NR_148392.1:n.1632del | ||
| NR_148393.1:n.1414del | ||
| NR_148394.1:n.1307del | ||
| NR_148395.1:n.1566del | ||
| NR_148396.1:n.1200del | ||
| NR_148397.1:n.1464del | ||
| NR_148398.1:n.1419del | ||
| NR_148399.1:n.1806del | ||
| NR_148400.1:n.1405del | ||
| XM_005272162.3:c.233del | XP_005272219.1:p.Lys78SerfsTer2 | |
| XM_006716932.2:c.1079del | XP_006716995.1:p.Lys360SerfsTer2 | |
| XM_011518140.2:c.1283del | XP_011516442.1:p.Lys428SerfsTer2 | |
| XM_011518141.2:c.1217del | XP_011516443.1:p.Lys406SerfsTer2 | |
| XM_011518142.2:c.1121del | XP_011516444.1:p.Lys374SerfsTer2 | |
| XM_011518143.2:c.1115del | XP_011516445.1:p.Lys372SerfsTer2 | |
| XM_011518145.2:c.974del | XP_011516447.1:p.Lys325SerfsTer2 | |
| XM_017014205.2:c.233del | XP_016869694.1:p.Lys78SerfsTer2 | |
| XM_024447380.1:c.233del | XP_024303148.1:p.Lys78SerfsTer2 | |
| XM_024447381.1:c.539del | XP_024303149.1:p.Lys180SerfsTer2 | |
| XM_024447382.1:c.233del | XP_024303150.1:p.Lys78SerfsTer2 | |
| XR_001746160.2:n.1534del | ||
| XR_001746162.2:n.1600del | ||
| XR_001746164.1:n.1317del | ||
| XR_001746166.2:n.1751del | ||
| NM_001077365.2:c.1364del MANE Select | NP_001070833.1:p.Lys455SerfsTer2 | |
| NM_001077366.2:c.1202del | NP_001070834.1:p.Lys401SerfsTer2 | |
| NM_001136113.2:c.1364del | NP_001129585.1:p.Lys455SerfsTer2 | |
| NM_001136114.2:c.1013del | NP_001129586.1:p.Lys338SerfsTer2 | |
| NM_001353193.2:c.1430del | NP_001340122.2:p.Lys477SerfsTer2 | |
| NM_001353194.2:c.1202del | NP_001340123.1:p.Lys401SerfsTer2 | |
| NM_001353195.2:c.1013del | NP_001340124.1:p.Lys338SerfsTer2 | |
| NM_001353196.2:c.1274del | NP_001340125.1:p.Lys425SerfsTer2 | |
| NM_001353197.2:c.1268del | NP_001340126.2:p.Lys423SerfsTer2 | |
| NM_001353198.2:c.1268del | NP_001340127.2:p.Lys423SerfsTer2 | |
| NM_001353199.2:c.1079del | NP_001340128.2:p.Lys360SerfsTer2 | |
| NM_001353200.2:c.908del | NP_001340129.1:p.Lys303SerfsTer2 | |
| NM_001374689.1:c.1352del | NP_001361618.1:p.Lys451SerfsTer2 | |
| NM_001374690.1:c.1364del | NP_001361619.1:p.Lys455SerfsTer7 | |
| NM_001374691.1:c.1013del | NP_001361620.1:p.Lys338SerfsTer2 | |
| NM_001374692.1:c.1013del | NP_001361621.1:p.Lys338SerfsTer2 | |
| NM_001374693.1:c.1013del | NP_001361622.1:p.Lys338SerfsTer2 | |
| NM_001374695.1:c.974del | NP_001361624.1:p.Lys325SerfsTer2 | |
| NM_007171.4:c.1430del | NP_009102.4:p.Lys477SerfsTer2 | |
| NR_148391.2:n.1398del | ||
| NR_148392.2:n.1616del | ||
| NR_148393.2:n.1398del | ||
| NR_148394.2:n.1291del | ||
| NR_148395.2:n.1550del | ||
| NR_148396.2:n.1184del | ||
| NR_148397.2:n.1448del | ||
| NR_148398.2:n.1403del | ||
| NR_148399.2:n.1790del | ||
| NR_148400.2:n.1389del |