Canonical Allele Identifier: CA341624
Gene: HPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98422424del , CM000672.2:g.98422424del GRCh38
NC_000010.10:g.100182181del , CM000672.1:g.100182181del GRCh37
NC_000010.9:g.100172171del NCBI36
NG_009646.1:g.29527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699112.1:c.1331del ENSP00000514137.1:p.Lys444ArgfsTer22
ENST00000699113.1:c.*1047del ENSP00000514138.1:n.*1047del
ENST00000699114.1:n.1578del
ENST00000699115.1:c.*268del ENSP00000514139.1:n.*268del
ENST00000699116.1:n.4159del
ENST00000699117.1:n.2343del
ENST00000699118.1:c.1304del ENSP00000514140.1:p.Lys435ArgfsTer22
ENST00000699119.1:c.*882del ENSP00000514141.1:n.*882del
ENST00000699120.1:c.*1149del ENSP00000514142.1:n.*1149del
ENST00000699121.1:c.*1050del ENSP00000514143.1:n.*1050del
ENST00000699122.1:c.1118del ENSP00000514144.1:p.Lys373ArgfsTer22
ENST00000699123.1:c.*1459del ENSP00000514145.1:n.*1459del
ENST00000699124.1:n.3094del
ENST00000699125.1:c.1721del ENSP00000514146.1:p.Lys574ArgfsTer22
ENST00000699126.1:n.3672del
ENST00000699127.1:n.2018del
ENST00000699128.1:c.*808del ENSP00000514147.1:n.*808del
ENST00000699129.1:c.*914del ENSP00000514148.1:n.*914del
ENST00000699130.1:n.3064del
ENST00000699131.1:c.1523del ENSP00000514149.1:p.Lys508ArgfsTer22
ENST00000699132.1:n.3986del
ENST00000699133.1:c.1424del ENSP00000514150.1:p.Lys475ArgfsTer22
ENST00000699134.1:c.1949del ENSP00000514151.1:p.Lys650ArgfsTer22
ENST00000699135.1:c.*901del ENSP00000514152.1:n.*901del
ENST00000699136.1:c.1592del ENSP00000514153.1:p.Lys531ArgfsTer22
ENST00000699137.1:c.1304del ENSP00000514154.1:p.Lys435ArgfsTer22
ENST00000699138.1:c.*1149del ENSP00000514155.1:n.*1149del
ENST00000699139.1:c.1430del ENSP00000514156.1:p.Lys477ArgfsTer22
ENST00000699140.1:c.1592del ENSP00000514157.1:p.Lys531ArgfsTer22
ENST00000699141.1:c.*1127del ENSP00000514158.1:n.*1127del
ENST00000699142.1:c.1691del ENSP00000514159.1:p.Lys564ArgfsTer22
ENST00000699143.1:c.*1050del ENSP00000514160.1:n.*1050del
ENST00000699144.1:c.*1149del ENSP00000514161.1:n.*1149del
ENST00000699145.1:c.1691del ENSP00000514162.1:p.Lys564ArgfsTer22
ENST00000699146.1:c.1691del ENSP00000514164.1:p.Lys564ArgfsTer22
ENST00000699147.1:c.*1149del ENSP00000514165.1:n.*1149del
ENST00000699148.1:n.897del
ENST00000699159.1:c.*1050del ENSP00000514167.1:n.*1050del
ENST00000361490.9:c.1691del MANE Select ENSP00000355310.4:p.Lys564ArgfsTer22
ENST00000325103.10:c.1691del ENSP00000326649.6:p.Lys564ArgfsTer22
ENST00000361490.8:c.1691del ENSP00000355310.4:p.Lys564ArgfsTer22
ENST00000467246.5:n.1830del
ENST00000613394.4:c.1691del ENSP00000477926.1:p.Lys564ArgfsTer22
NM_000195.3:c.1691del NP_000186.2:p.Lys564ArgfsTer22
NM_000195.4:c.1691del NP_000186.2:p.Lys564ArgfsTer22
NM_001311345.1:c.719del NP_001298274.1:p.Lys240ArgfsTer22
XM_005269755.2:c.1691del XP_005269812.1:p.Lys564ArgfsTer22
XM_005269756.2:c.1691del XP_005269813.1:p.Lys564ArgfsTer22
XM_005269757.3:c.1691del XP_005269814.1:p.Lys564ArgfsTer22
XM_005269758.1:c.1592del XP_005269815.1:p.Lys531ArgfsTer22
XM_005269759.1:c.1322del XP_005269816.1:p.Lys441ArgfsTer22
XM_005269760.3:c.719del XP_005269817.1:p.Lys240ArgfsTer22
XM_005269761.1:c.719del XP_005269818.1:p.Lys240ArgfsTer22
XM_006717818.1:c.1430del XP_006717881.1:p.Lys477ArgfsTer22
NM_001322476.1:c.1691del NP_001309405.1:p.Lys564ArgfsTer22
NM_001322477.1:c.1691del NP_001309406.1:p.Lys564ArgfsTer22
NM_001322478.1:c.1592del NP_001309407.1:p.Lys531ArgfsTer22
NM_001322479.1:c.1592del NP_001309408.1:p.Lys531ArgfsTer22
NM_001322480.1:c.1430del NP_001309409.1:p.Lys477ArgfsTer22
NM_001322481.1:c.1430del NP_001309410.1:p.Lys477ArgfsTer22
NM_001322482.1:c.1331del NP_001309411.1:p.Lys444ArgfsTer22
NM_001322483.1:c.1322del NP_001309412.1:p.Lys441ArgfsTer22
NM_001322484.1:c.1322del NP_001309413.1:p.Lys441ArgfsTer22
NM_001322485.1:c.1223del NP_001309414.1:p.Lys408ArgfsTer22
NM_001322487.1:c.719del NP_001309416.1:p.Lys240ArgfsTer22
NM_001322489.1:c.719del NP_001309418.1:p.Lys240ArgfsTer22
XM_005269757.4:c.1691del XP_005269814.1:p.Lys564ArgfsTer22
XM_017016170.1:c.1331del XP_016871659.1:p.Lys444ArgfsTer22
XM_017016171.2:c.1223del XP_016871660.1:p.Lys408ArgfsTer22
XM_017016172.2:c.719del XP_016871661.1:p.Lys240ArgfsTer22
XM_024447971.1:c.1721del XP_024303739.1:p.Lys574ArgfsTer22
XM_024447972.1:c.719del XP_024303740.1:p.Lys240ArgfsTer22
XR_001747098.1:n.1960del
XR_001747099.2:n.1938del
XR_001747101.2:n.1839del
NM_000195.5:c.1691del MANE Select NP_000186.2:p.Lys564ArgfsTer22
NM_001311345.2:c.719del NP_001298274.1:p.Lys240ArgfsTer22
NM_001322476.2:c.1691del NP_001309405.1:p.Lys564ArgfsTer22
NM_001322477.2:c.1691del NP_001309406.1:p.Lys564ArgfsTer22
NM_001322478.2:c.1592del NP_001309407.1:p.Lys531ArgfsTer22
NM_001322479.2:c.1592del NP_001309408.1:p.Lys531ArgfsTer22
NM_001322480.2:c.1430del NP_001309409.1:p.Lys477ArgfsTer22
NM_001322481.2:c.1430del NP_001309410.1:p.Lys477ArgfsTer22
NM_001322482.2:c.1331del NP_001309411.1:p.Lys444ArgfsTer22
NM_001322483.2:c.1322del NP_001309412.1:p.Lys441ArgfsTer22
NM_001322484.2:c.1322del NP_001309413.1:p.Lys441ArgfsTer22
NM_001322485.2:c.1223del NP_001309414.1:p.Lys408ArgfsTer22
NM_001322487.2:c.719del NP_001309416.1:p.Lys240ArgfsTer22
NM_001322489.2:c.719del NP_001309418.1:p.Lys240ArgfsTer22