ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
MyVariant.info:
GRCh38
chr9:g.131520152del
GRCh38
chr9:g.131520150del
GRCh37
chr9:g.134395539del
GRCh37
chr9:g.134395537del
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131520152del , CM000671.2:g.131520152del | GRCh38 |
| NC_000009.11:g.134395539del , CM000671.1:g.134395539del | GRCh37 |
| NC_000009.10:g.133385360del | NCBI36 |
| NG_008896.1:g.22251del | |
| NG_008896.2:g.22251del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1495del | ENSP00000343034.7:p.Leu499TrpfsTer23 | |
| ENST00000404875.7:n.2197del | ||
| ENST00000423007.6:c.1714del | ENSP00000404119.2:p.Leu572TrpfsTer23 | |
| ENST00000677295.2:c.*2001del | ENSP00000504346.2:n.*2001del | |
| ENST00000678264.2:c.*1840del | ENSP00000503157.2:n.*1840del | |
| ENST00000682070.1:n.2122del | ||
| ENST00000682813.1:n.2061del | ||
| ENST00000683392.1:n.4404del | ||
| ENST00000683712.1:n.2062del | ||
| ENST00000683900.1:n.3557del | ||
| ENST00000684062.1:n.2323del | ||
| ENST00000684579.1:n.3503del | ||
| ENST00000684679.1:n.884del | ||
| ENST00000341012.12:c.1495del | ENSP00000343034.7:p.Leu499TrpfsTer23 | |
| ENST00000372220.5:c.526del | ENSP00000361294.5:p.Leu176TrpfsTer23 | |
| ENST00000372228.9:c.1723del | ENSP00000361302.3:p.Leu575TrpfsTer23 | |
| ENST00000402686.8:c.1657del MANE Select | ENSP00000385797.4:p.Leu553TrpfsTer23 | |
| ENST00000676640.1:c.1657del | ENSP00000503281.1:p.Leu553TrpfsTer23 | |
| ENST00000676803.1:c.759+666del | ENSP00000503093.1:n.759+666del | |
| ENST00000676835.1:c.*872del | ENSP00000502911.1:n.*872del | |
| ENST00000677029.1:c.1201del | ENSP00000502936.1:p.Leu401TrpfsTer23 | |
| ENST00000677099.1:c.*1367del | ENSP00000504553.1:n.*1367del | |
| ENST00000677216.1:c.1306del | ENSP00000503772.1:p.Leu436TrpfsTer23 | |
| ENST00000677221.1:n.682del | ||
| ENST00000677295.1:c.*1034del | ENSP00000504346.1:n.*1034del | |
| ENST00000677444.1:c.1602del | ||
| ENST00000677586.1:n.1065+666del | ||
| ENST00000677626.1:c.1306del | ENSP00000503552.1:p.Leu436TrpfsTer23 | |
| ENST00000677677.1:n.1617del | ||
| ENST00000677853.1:c.*665del | ENSP00000503488.1:n.*665del | |
| ENST00000678202.1:n.816del | ||
| ENST00000678264.1:c.*1034del | ENSP00000503157.1:n.*1034del | |
| ENST00000678303.1:c.1567del | ENSP00000503696.1:p.Leu523TrpfsTer23 | |
| ENST00000678366.1:c.*1906del | ENSP00000504353.1:n.*1906del | |
| ENST00000678546.1:c.*1602del | ENSP00000503062.1:n.*1602del | |
| ENST00000678548.1:c.*1729del | ENSP00000503934.1:n.*1729del | |
| ENST00000678626.1:n.1493del | ||
| ENST00000678739.1:c.*1978del | ENSP00000503806.1:n.*1978del | |
| ENST00000678833.1:c.*1409del | ENSP00000503893.1:n.*1409del | |
| ENST00000679023.1:c.1495del | ENSP00000503718.1:p.Leu499TrpfsTer23 | |
| ENST00000679076.1:c.1276del | ||
| ENST00000679111.1:c.*413del | ENSP00000504257.1:n.*413del | |
| ENST00000679189.1:c.1306del | ENSP00000503356.1:p.Leu436TrpfsTer23 | |
| ENST00000341012.11:c.1495del | ENSP00000343034.7:p.Leu499TrpfsTer23 | |
| ENST00000372220.4:c.520del | ENSP00000361294.4:p.Leu174TrpfsTer23 | |
| ENST00000372228.7:c.1723del | ENSP00000361302.3:p.Leu575TrpfsTer23 | |
| ENST00000402686.7:c.1657del | ENSP00000385797.3:p.Leu553TrpfsTer23 | |
| ENST00000404875.6:c.1306del | ENSP00000384531.2:p.Leu436TrpfsTer23 | |
| ENST00000423007.5:c.1657del | ENSP00000404119.1:p.Leu553TrpfsTer23 | |
| ENST00000467848.1:n.361del | ||
| ENST00000485278.5:n.2207del | ||
| NM_001077365.1:c.1657del | NP_001070833.1:p.Leu553TrpfsTer23 | |
| NM_001077366.1:c.1495del | NP_001070834.1:p.Leu499TrpfsTer23 | |
| NM_001136113.1:c.1657del | NP_001129585.1:p.Leu553TrpfsTer23 | |
| NM_001136114.1:c.1306del | NP_001129586.1:p.Leu436TrpfsTer23 | |
| NM_007171.3:c.1723del | NP_009102.3:p.Leu575TrpfsTer23 | |
| XM_005272156.1:c.1723del | XP_005272213.1:p.Leu575TrpfsTer23 | |
| XM_005272158.1:c.1561del | XP_005272215.1:p.Leu521TrpfsTer23 | |
| XM_005272159.1:c.1372del | XP_005272216.1:p.Leu458TrpfsTer23 | |
| XM_005272162.1:c.526del | XP_005272219.1:p.Leu176TrpfsTer23 | |
| XM_006716932.1:c.1372del | XP_006716995.1:p.Leu458TrpfsTer23 | |
| XM_011518140.1:c.1576del | XP_011516442.1:p.Leu526TrpfsTer23 | |
| XM_011518141.1:c.1510del | XP_011516443.1:p.Leu504TrpfsTer23 | |
| XM_011518142.1:c.1414del | XP_011516444.1:p.Leu472TrpfsTer23 | |
| XM_011518143.1:c.1408del | XP_011516445.1:p.Leu470TrpfsTer23 | |
| XM_011518145.1:c.1267del | XP_011516447.1:p.Leu423TrpfsTer23 | |
| XM_011518147.1:c.595del | XP_011516449.1:p.Leu199TrpfsTer23 | |
| XR_929703.1:n.1899del | ||
| NM_001353193.1:c.1723del | NP_001340122.1:p.Leu575TrpfsTer23 | |
| NM_001353194.1:c.1495del | NP_001340123.1:p.Leu499TrpfsTer23 | |
| NM_001353195.1:c.1306del | NP_001340124.1:p.Leu436TrpfsTer23 | |
| NM_001353196.1:c.1567del | NP_001340125.1:p.Leu523TrpfsTer23 | |
| NM_001353197.1:c.1561del | NP_001340126.1:p.Leu521TrpfsTer23 | |
| NM_001353198.1:c.1561del | NP_001340127.1:p.Leu521TrpfsTer23 | |
| NM_001353199.1:c.1372del | NP_001340128.1:p.Leu458TrpfsTer23 | |
| NM_001353200.1:c.1201del | NP_001340129.1:p.Leu401TrpfsTer23 | |
| NR_148391.1:n.1707del | ||
| NR_148392.1:n.1925del | ||
| NR_148393.1:n.1846del | ||
| NR_148394.1:n.1600del | ||
| NR_148395.1:n.1998del | ||
| NR_148396.1:n.1632del | ||
| NR_148397.1:n.1757del | ||
| NR_148398.1:n.1712del | ||
| NR_148399.1:n.2238del | ||
| NR_148400.1:n.1837del | ||
| XM_005272162.3:c.526del | XP_005272219.1:p.Leu176TrpfsTer23 | |
| XM_006716932.2:c.1372del | XP_006716995.1:p.Leu458TrpfsTer23 | |
| XM_011518140.2:c.1576del | XP_011516442.1:p.Leu526TrpfsTer23 | |
| XM_011518141.2:c.1510del | XP_011516443.1:p.Leu504TrpfsTer23 | |
| XM_011518142.2:c.1414del | XP_011516444.1:p.Leu472TrpfsTer23 | |
| XM_011518143.2:c.1408del | XP_011516445.1:p.Leu470TrpfsTer23 | |
| XM_011518145.2:c.1267del | XP_011516447.1:p.Leu423TrpfsTer23 | |
| XM_017014205.2:c.526del | XP_016869694.1:p.Leu176TrpfsTer23 | |
| XM_024447380.1:c.526del | XP_024303148.1:p.Leu176TrpfsTer23 | |
| XM_024447381.1:c.832del | XP_024303149.1:p.Leu278TrpfsTer23 | |
| XM_024447382.1:c.526del | XP_024303150.1:p.Leu176TrpfsTer23 | |
| XR_001746160.2:n.1827del | ||
| XR_001746162.2:n.2032del | ||
| XR_001746164.1:n.1749del | ||
| XR_001746166.2:n.2044del | ||
| NM_001077365.2:c.1657del MANE Select | NP_001070833.1:p.Leu553TrpfsTer23 | |
| NM_001077366.2:c.1495del | NP_001070834.1:p.Leu499TrpfsTer23 | |
| NM_001136113.2:c.1657del | NP_001129585.1:p.Leu553TrpfsTer23 | |
| NM_001136114.2:c.1306del | NP_001129586.1:p.Leu436TrpfsTer23 | |
| NM_001353193.2:c.1723del | NP_001340122.2:p.Leu575TrpfsTer23 | |
| NM_001353194.2:c.1495del | NP_001340123.1:p.Leu499TrpfsTer23 | |
| NM_001353195.2:c.1306del | NP_001340124.1:p.Leu436TrpfsTer23 | |
| NM_001353196.2:c.1567del | NP_001340125.1:p.Leu523TrpfsTer23 | |
| NM_001353197.2:c.1561del | NP_001340126.2:p.Leu521TrpfsTer23 | |
| NM_001353198.2:c.1561del | NP_001340127.2:p.Leu521TrpfsTer23 | |
| NM_001353199.2:c.1372del | NP_001340128.2:p.Leu458TrpfsTer23 | |
| NM_001353200.2:c.1201del | NP_001340129.1:p.Leu401TrpfsTer23 | |
| NM_001374689.1:c.1645del | NP_001361618.1:p.Leu549TrpfsTer23 | |
| NM_001374690.1:c.1438del | NP_001361619.1:p.Leu480TrpfsTer23 | |
| NM_001374691.1:c.1306del | NP_001361620.1:p.Leu436TrpfsTer23 | |
| NM_001374692.1:c.1306del | NP_001361621.1:p.Leu436TrpfsTer23 | |
| NM_001374693.1:c.1306del | NP_001361622.1:p.Leu436TrpfsTer23 | |
| NM_001374695.1:c.1267del | NP_001361624.1:p.Leu423TrpfsTer23 | |
| NM_007171.4:c.1723del | NP_009102.4:p.Leu575TrpfsTer23 | |
| NR_148391.2:n.1691del | ||
| NR_148392.2:n.1909del | ||
| NR_148393.2:n.1830del | ||
| NR_148394.2:n.1584del | ||
| NR_148395.2:n.1982del | ||
| NR_148396.2:n.1616del | ||
| NR_148397.2:n.1741del | ||
| NR_148398.2:n.1696del | ||
| NR_148399.2:n.2222del | ||
| NR_148400.2:n.1821del |