Canonical Allele Identifier: CA342357
Gene: HPS4 HGNC NCBI

Linked Data

dbSNP Id: rs281865099

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26457949del , CM000684.2:g.26457949del GRCh38
NC_000022.10:g.26853915del , CM000684.1:g.26853915del GRCh37
NC_000022.9:g.25183915del NCBI36
NG_009763.2:g.30916del , LRG_590:g.30916del

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.1920del ENSP00000415081.3:p.Thr641ProfsTer13
ENST00000473782.2:c.1866del ENSP00000514223.1:p.Thr623ProfsTer13
ENST00000483631.2:c.1071del ENSP00000514228.1:p.Thr358ProfsTer13
ENST00000491142.2:c.1866del ENSP00000514221.1:p.Thr623ProfsTer13
ENST00000699226.1:n.4792del
ENST00000699227.1:c.*1210del ENSP00000514220.1:n.*1210del
ENST00000699228.1:n.2416del
ENST00000699229.1:n.1283del
ENST00000699230.1:n.2589del
ENST00000699231.1:n.4878del
ENST00000699232.1:n.3222del
ENST00000699233.1:n.1737del
ENST00000699234.1:c.*1210del ENSP00000514222.1:n.*1210del
ENST00000699235.1:c.1071del ENSP00000514224.1:p.Thr358ProfsTer13
ENST00000699236.1:c.*1055del ENSP00000514225.1:n.*1055del
ENST00000699237.1:c.*1055del ENSP00000514226.1:n.*1055del
ENST00000699238.1:c.*1409del ENSP00000514227.1:n.*1409del
ENST00000699239.1:n.4620del
ENST00000699240.1:c.*1523del ENSP00000514229.1:n.*1523del
ENST00000699241.1:c.*2058del ENSP00000514230.1:n.*2058del
ENST00000699242.1:c.1776del ENSP00000514231.1:p.Thr593ProfsTer13
ENST00000699243.1:c.*1210del ENSP00000514232.1:n.*1210del
ENST00000699244.1:c.1719del ENSP00000514233.1:p.Thr574ProfsTer13
ENST00000699245.1:n.1158del
ENST00000699246.1:c.*1237del ENSP00000514234.1:n.*1237del
ENST00000699247.1:c.822del ENSP00000514235.1:p.Thr275ProfsTer13
ENST00000699248.1:n.3784-4544del
ENST00000699249.1:c.*1058-4544del ENSP00000514236.1:n.*1058-4544del
ENST00000699250.1:c.1714-4544del ENSP00000514237.1:n.1714-4544del
ENST00000699251.1:c.1866del ENSP00000514238.1:p.Thr623ProfsTer13
ENST00000699252.1:n.2416del
ENST00000398145.7:c.1866del MANE Select ENSP00000381213.2:p.Thr623ProfsTer13
ENST00000336873.9:c.1866del ENSP00000338457.5:p.Thr623ProfsTer13
ENST00000398145.6:c.1866del ENSP00000381213.2:p.Thr623ProfsTer13
ENST00000402105.7:c.1851del ENSP00000384185.3:p.Thr618ProfsTer13
ENST00000429411.5:c.*1438del ENSP00000399705.1:n.*1438del
ENST00000439453.5:c.*1384del ENSP00000406764.1:n.*1384del
ENST00000464362.5:c.*2197del ENSP00000430291.1:n.*2197del
ENST00000466781.5:n.4725del
ENST00000485842.5:n.557del
ENST00000493455.6:n.429del
ENST00000496385.5:n.2480-4544del
ENST00000519774.5:n.252del
NM_022081.5:c.1866del , LRG_590t1:c.1866del NP_071364.4:p.Thr623ProfsTer13
NM_152841.2:c.1851del , LRG_590t2:c.1851del NP_690054.1:p.Thr618ProfsTer13
NR_073135.1:n.2552del
NR_073136.1:n.2314del
XM_006724353.2:c.1920del XP_006724416.1:p.Thr641ProfsTer13
XM_006724354.2:c.1920del XP_006724417.1:p.Thr641ProfsTer13
XM_006724360.2:c.1353del XP_006724423.1:p.Thr452ProfsTer13
XM_011530485.1:c.1998del XP_011528787.1:p.Thr667ProfsTer13
XM_011530486.1:c.1998del XP_011528788.1:p.Thr667ProfsTer13
XM_011530487.1:c.1998del XP_011528789.1:p.Thr667ProfsTer13
XM_011530488.1:c.1998del XP_011528790.1:p.Thr667ProfsTer13
XM_011530489.1:c.1998del XP_011528791.1:p.Thr667ProfsTer13
XM_011530490.1:c.1944del XP_011528792.1:p.Thr649ProfsTer13
XM_011530491.1:c.1998del XP_011528793.1:p.Thr667ProfsTer13
XM_011530492.1:c.1998del XP_011528794.1:p.Thr667ProfsTer13
XM_011530493.1:c.1846-4544del XP_011528795.1:n.1846-4544del
XM_011530494.1:c.1206del XP_011528796.1:p.Thr403ProfsTer13
XM_011530495.1:c.1353del XP_011528797.1:p.Thr452ProfsTer13
XM_011530496.1:c.1206del XP_011528798.1:p.Thr403ProfsTer13
XR_937947.1:n.2657del
NM_001349896.1:c.1866del NP_001336825.1:p.Thr623ProfsTer13
NM_001349898.1:c.1866del NP_001336827.1:p.Thr623ProfsTer13
NM_001349899.1:c.1866del NP_001336828.1:p.Thr623ProfsTer13
NM_001349900.1:c.1920del NP_001336829.1:p.Thr641ProfsTer13
NM_001349901.1:c.1920del NP_001336830.1:p.Thr641ProfsTer13
NM_001349902.1:c.1714-4544del NP_001336831.1:n.1714-4544del
NM_001349903.1:c.1714-4544del NP_001336832.1:n.1714-4544del
NM_001349904.1:c.1866del NP_001336833.1:p.Thr623ProfsTer13
NM_001349905.1:c.1866del NP_001336834.1:p.Thr623ProfsTer13
NR_146311.1:n.2643del
NR_146312.1:n.2468del
NR_146313.1:n.2488del
NR_146314.1:n.2619del
NR_146315.1:n.2559del
NR_146316.1:n.2534del
XM_006724360.3:c.1353del XP_006724423.1:p.Thr452ProfsTer13
XM_011530485.2:c.1998del XP_011528787.1:p.Thr667ProfsTer13
XM_011530486.2:c.1998del XP_011528788.1:p.Thr667ProfsTer13
XM_011530487.2:c.1998del XP_011528789.1:p.Thr667ProfsTer13
XM_011530488.2:c.1998del XP_011528790.1:p.Thr667ProfsTer13
XM_011530489.2:c.1998del XP_011528791.1:p.Thr667ProfsTer13
XM_011530490.3:c.1944del XP_011528792.1:p.Thr649ProfsTer13
XM_011530491.3:c.1998del XP_011528793.1:p.Thr667ProfsTer13
XM_011530492.2:c.1998del XP_011528794.1:p.Thr667ProfsTer13
XM_011530493.3:c.1846-4544del XP_011528795.1:n.1846-4544del
XM_011530494.2:c.1206del XP_011528796.1:p.Thr403ProfsTer13
XM_011530495.2:c.1353del XP_011528797.1:p.Thr452ProfsTer13
XM_011530496.2:c.1206del XP_011528798.1:p.Thr403ProfsTer13
XM_017029045.2:c.1944del XP_016884534.1:p.Thr649ProfsTer13
XM_017029046.2:c.1866del XP_016884535.1:p.Thr623ProfsTer13
XM_017029047.2:c.1792-4544del XP_016884536.1:n.1792-4544del
XM_017029052.2:c.1458del XP_016884541.1:p.Thr487ProfsTer13
XM_017029053.1:c.1443del XP_016884542.1:p.Thr482ProfsTer13
XM_017029056.2:c.1071del XP_016884545.1:p.Thr358ProfsTer13
XM_017029061.2:c.1071del XP_016884550.1:p.Thr358ProfsTer13
XM_017029062.2:c.1071del XP_016884551.1:p.Thr358ProfsTer13
XM_017029063.2:c.1071del XP_016884552.1:p.Thr358ProfsTer13
XM_017029064.2:c.1071del XP_016884553.1:p.Thr358ProfsTer13
XM_024452298.1:c.1239del XP_024308066.1:p.Thr414ProfsTer13
XM_024452299.1:c.1071del XP_024308067.1:p.Thr358ProfsTer13
XM_024452300.1:c.1071del XP_024308068.1:p.Thr358ProfsTer13
XR_001755361.2:n.2574del
XR_001755364.1:n.2278-4544del
XR_001755366.2:n.3103del
XR_002958721.1:n.2500-4544del
XR_937947.2:n.2652del
NM_001349898.2:c.1866del NP_001336827.1:p.Thr623ProfsTer13
NM_001349899.2:c.1866del NP_001336828.1:p.Thr623ProfsTer13
NM_001349900.2:c.1920del NP_001336829.1:p.Thr641ProfsTer13
NM_001349903.2:c.1714-4544del NP_001336832.1:n.1714-4544del
NM_001349904.2:c.1866del NP_001336833.1:p.Thr623ProfsTer13
NR_073136.2:n.2121del
NR_146311.2:n.2563del
NR_146313.2:n.2408del
NR_146315.2:n.2479del
NM_022081.6:c.1866del MANE Select NP_071364.4:p.Thr623ProfsTer13
NR_146316.2:n.2454del