Canonical Allele Identifier: CA2399201716
Gene: HPS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26457753_26457759delinsAATGTTT , CM000684.2:g.26457753_26457759delinsAATGTTT GRCh38
NC_000022.10:g.26853719_26853725delinsAATGTTT , CM000684.1:g.26853719_26853725delinsAATGTTT GRCh37
NC_000022.9:g.25183719_25183725delinsAATGTTT NCBI36
NG_009763.2:g.31105_31111delinsAAACATT , LRG_590:g.31105_31111delinsAAACATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.2009+100_2009+106delinsAAACATT ENSP00000415081.3:n.2009+100_2009+106delinsAAACATT
ENST00000473782.2:c.1955+100_1955+106delinsAAACATT ENSP00000514223.1:n.1955+100_1955+106delinsAAACATT
ENST00000483631.2:c.1160+100_1160+106delinsAAACATT ENSP00000514228.1:n.1160+100_1160+106delinsAAACATT
ENST00000491142.2:c.1955+100_1955+106delinsAAACATT ENSP00000514221.1:n.1955+100_1955+106delinsAAACATT
ENST00000699226.1:n.4881+100_4881+106delinsAAACATT
ENST00000699227.1:c.*1299+100_*1299+106delinsAAACATT ENSP00000514220.1:n.*1299+100_*1299+106delinsAAACATT
ENST00000699228.1:n.2505+100_2505+106delinsAAACATT
ENST00000699229.1:n.1372+100_1372+106delinsAAACATT
ENST00000699230.1:n.2678+100_2678+106delinsAAACATT
ENST00000699231.1:n.4967+100_4967+106delinsAAACATT
ENST00000699232.1:n.3311+100_3311+106delinsAAACATT
ENST00000699233.1:n.1826+100_1826+106delinsAAACATT
ENST00000699234.1:c.*1299+100_*1299+106delinsAAACATT ENSP00000514222.1:n.*1299+100_*1299+106delinsAAACATT
ENST00000699235.1:c.1160+100_1160+106delinsAAACATT ENSP00000514224.1:n.1160+100_1160+106delinsAAACATT
ENST00000699236.1:c.*1144+100_*1144+106delinsAAACATT ENSP00000514225.1:n.*1144+100_*1144+106delinsAAACATT
ENST00000699237.1:c.*1144+100_*1144+106delinsAAACATT ENSP00000514226.1:n.*1144+100_*1144+106delinsAAACATT
ENST00000699238.1:c.*1498+100_*1498+106delinsAAACATT ENSP00000514227.1:n.*1498+100_*1498+106delinsAAACATT
ENST00000699239.1:n.4709+100_4709+106delinsAAACATT
ENST00000699240.1:c.*1612+100_*1612+106delinsAAACATT ENSP00000514229.1:n.*1612+100_*1612+106delinsAAACATT
ENST00000699241.1:c.*2147+100_*2147+106delinsAAACATT ENSP00000514230.1:n.*2147+100_*2147+106delinsAAACATT
ENST00000699242.1:c.1865+100_1865+106delinsAAACATT ENSP00000514231.1:n.1865+100_1865+106delinsAAACATT
ENST00000699243.1:c.*1299+100_*1299+106delinsAAACATT ENSP00000514232.1:n.*1299+100_*1299+106delinsAAACATT
ENST00000699244.1:c.1808+100_1808+106delinsAAACATT ENSP00000514233.1:n.1808+100_1808+106delinsAAACATT
ENST00000699245.1:n.1247+100_1247+106delinsAAACATT
ENST00000699246.1:c.*1326+100_*1326+106delinsAAACATT ENSP00000514234.1:n.*1326+100_*1326+106delinsAAACATT
ENST00000699247.1:c.911+100_911+106delinsAAACATT ENSP00000514235.1:n.911+100_911+106delinsAAACATT
ENST00000699248.1:n.3784-4355_3784-4349delinsAAACATT
ENST00000699249.1:c.*1058-4355_*1058-4349delinsAAACATT ENSP00000514236.1:n.*1058-4355_*1058-4349delinsAAACATT
ENST00000699250.1:c.1714-4355_1714-4349delinsAAACATT ENSP00000514237.1:n.1714-4355_1714-4349delinsAAACATT
ENST00000699251.1:c.1955+100_1955+106delinsAAACATT ENSP00000514238.1:n.1955+100_1955+106delinsAAACATT
ENST00000699252.1:n.2605_2611delinsAAACATT
ENST00000398145.7:c.1955+100_1955+106delinsAAACATT MANE Select ENSP00000381213.2:n.1955+100_1955+106delinsAAACATT
ENST00000336873.9:c.1955+100_1955+106delinsAAACATT ENSP00000338457.5:n.1955+100_1955+106delinsAAACATT
ENST00000398145.6:c.1955+100_1955+106delinsAAACATT ENSP00000381213.2:n.1955+100_1955+106delinsAAACATT
ENST00000402105.7:c.1940+100_1940+106delinsAAACATT ENSP00000384185.3:n.1940+100_1940+106delinsAAACATT
ENST00000429411.5:c.*1527+100_*1527+106delinsAAACATT ENSP00000399705.1:n.*1527+100_*1527+106delinsAAACATT
ENST00000439453.5:c.*1473+100_*1473+106delinsAAACATT ENSP00000406764.1:n.*1473+100_*1473+106delinsAAACATT
ENST00000464362.5:c.*2286+100_*2286+106delinsAAACATT ENSP00000430291.1:n.*2286+100_*2286+106delinsAAACATT
ENST00000466781.5:n.4814+100_4814+106delinsAAACATT
ENST00000485842.5:n.646+100_646+106delinsAAACATT
ENST00000493455.6:n.518+100_518+106delinsAAACATT
ENST00000496385.5:n.2480-4355_2480-4349delinsAAACATT
ENST00000519774.5:n.341+100_341+106delinsAAACATT
NM_022081.5:c.1955+100_1955+106delinsAAACATT , LRG_590t1:c.1955+100_1955+106delinsAAACATT NP_071364.4:n.1955+100_1955+106delinsAAACATT
NM_152841.2:c.1940+100_1940+106delinsAAACATT , LRG_590t2:c.1940+100_1940+106delinsAAACATT NP_690054.1:n.1940+100_1940+106delinsAAACATT
NR_073135.1:n.2641+100_2641+106delinsAAACATT
NR_073136.1:n.2403+100_2403+106delinsAAACATT
XM_006724353.2:c.2009+100_2009+106delinsAAACATT XP_006724416.1:n.2009+100_2009+106delinsAAACATT
XM_006724354.2:c.2009+100_2009+106delinsAAACATT XP_006724417.1:n.2009+100_2009+106delinsAAACATT
XM_006724360.2:c.1442+100_1442+106delinsAAACATT XP_006724423.1:n.1442+100_1442+106delinsAAACATT
XM_011530485.1:c.2087+100_2087+106delinsAAACATT XP_011528787.1:n.2087+100_2087+106delinsAAACATT
XM_011530486.1:c.2087+100_2087+106delinsAAACATT XP_011528788.1:n.2087+100_2087+106delinsAAACATT
XM_011530487.1:c.2087+100_2087+106delinsAAACATT XP_011528789.1:n.2087+100_2087+106delinsAAACATT
XM_011530488.1:c.2087+100_2087+106delinsAAACATT XP_011528790.1:n.2087+100_2087+106delinsAAACATT
XM_011530489.1:c.2087+100_2087+106delinsAAACATT XP_011528791.1:n.2087+100_2087+106delinsAAACATT
XM_011530490.1:c.2033+100_2033+106delinsAAACATT XP_011528792.1:n.2033+100_2033+106delinsAAACATT
XM_011530491.1:c.2087+100_2087+106delinsAAACATT XP_011528793.1:n.2087+100_2087+106delinsAAACATT
XM_011530492.1:c.2087+100_2087+106delinsAAACATT XP_011528794.1:n.2087+100_2087+106delinsAAACATT
XM_011530493.1:c.1846-4355_1846-4349delinsAAACATT XP_011528795.1:n.1846-4355_1846-4349delinsAAACATT
XM_011530494.1:c.1295+100_1295+106delinsAAACATT XP_011528796.1:n.1295+100_1295+106delinsAAACATT
XM_011530495.1:c.1442+100_1442+106delinsAAACATT XP_011528797.1:n.1442+100_1442+106delinsAAACATT
XM_011530496.1:c.1295+100_1295+106delinsAAACATT XP_011528798.1:n.1295+100_1295+106delinsAAACATT
XR_937947.1:n.2746+100_2746+106delinsAAACATT
NM_001349896.1:c.1955+100_1955+106delinsAAACATT NP_001336825.1:n.1955+100_1955+106delinsAAACATT
NM_001349898.1:c.1955+100_1955+106delinsAAACATT NP_001336827.1:n.1955+100_1955+106delinsAAACATT
NM_001349899.1:c.1955+100_1955+106delinsAAACATT NP_001336828.1:n.1955+100_1955+106delinsAAACATT
NM_001349900.1:c.2009+100_2009+106delinsAAACATT NP_001336829.1:n.2009+100_2009+106delinsAAACATT
NM_001349901.1:c.2009+100_2009+106delinsAAACATT NP_001336830.1:n.2009+100_2009+106delinsAAACATT
NM_001349902.1:c.1714-4355_1714-4349delinsAAACATT NP_001336831.1:n.1714-4355_1714-4349delinsAAACATT
NM_001349903.1:c.1714-4355_1714-4349delinsAAACATT NP_001336832.1:n.1714-4355_1714-4349delinsAAACATT
NM_001349904.1:c.1955+100_1955+106delinsAAACATT NP_001336833.1:n.1955+100_1955+106delinsAAACATT
NM_001349905.1:c.1955+100_1955+106delinsAAACATT NP_001336834.1:n.1955+100_1955+106delinsAAACATT
NR_146311.1:n.2732+100_2732+106delinsAAACATT
NR_146312.1:n.2557+100_2557+106delinsAAACATT
NR_146313.1:n.2577+100_2577+106delinsAAACATT
NR_146314.1:n.2708+100_2708+106delinsAAACATT
NR_146315.1:n.2648+100_2648+106delinsAAACATT
NR_146316.1:n.2623+100_2623+106delinsAAACATT
XM_006724360.3:c.1442+100_1442+106delinsAAACATT XP_006724423.1:n.1442+100_1442+106delinsAAACATT
XM_011530485.2:c.2087+100_2087+106delinsAAACATT XP_011528787.1:n.2087+100_2087+106delinsAAACATT
XM_011530486.2:c.2087+100_2087+106delinsAAACATT XP_011528788.1:n.2087+100_2087+106delinsAAACATT
XM_011530487.2:c.2087+100_2087+106delinsAAACATT XP_011528789.1:n.2087+100_2087+106delinsAAACATT
XM_011530488.2:c.2087+100_2087+106delinsAAACATT XP_011528790.1:n.2087+100_2087+106delinsAAACATT
XM_011530489.2:c.2087+100_2087+106delinsAAACATT XP_011528791.1:n.2087+100_2087+106delinsAAACATT
XM_011530490.3:c.2033+100_2033+106delinsAAACATT XP_011528792.1:n.2033+100_2033+106delinsAAACATT
XM_011530491.3:c.2087+100_2087+106delinsAAACATT XP_011528793.1:n.2087+100_2087+106delinsAAACATT
XM_011530492.2:c.2087+100_2087+106delinsAAACATT XP_011528794.1:n.2087+100_2087+106delinsAAACATT
XM_011530493.3:c.1846-4355_1846-4349delinsAAACATT XP_011528795.1:n.1846-4355_1846-4349delinsAAACATT
XM_011530494.2:c.1295+100_1295+106delinsAAACATT XP_011528796.1:n.1295+100_1295+106delinsAAACATT
XM_011530495.2:c.1442+100_1442+106delinsAAACATT XP_011528797.1:n.1442+100_1442+106delinsAAACATT
XM_011530496.2:c.1295+100_1295+106delinsAAACATT XP_011528798.1:n.1295+100_1295+106delinsAAACATT
XM_017029045.2:c.2033+100_2033+106delinsAAACATT XP_016884534.1:n.2033+100_2033+106delinsAAACATT
XM_017029046.2:c.1955+100_1955+106delinsAAACATT XP_016884535.1:n.1955+100_1955+106delinsAAACATT
XM_017029047.2:c.1792-4355_1792-4349delinsAAACATT XP_016884536.1:n.1792-4355_1792-4349delinsAAACATT
XM_017029052.2:c.1547+100_1547+106delinsAAACATT XP_016884541.1:n.1547+100_1547+106delinsAAACATT
XM_017029053.1:c.1532+100_1532+106delinsAAACATT XP_016884542.1:n.1532+100_1532+106delinsAAACATT
XM_017029056.2:c.1160+100_1160+106delinsAAACATT XP_016884545.1:n.1160+100_1160+106delinsAAACATT
XM_017029061.2:c.1160+100_1160+106delinsAAACATT XP_016884550.1:n.1160+100_1160+106delinsAAACATT
XM_017029062.2:c.1160+100_1160+106delinsAAACATT XP_016884551.1:n.1160+100_1160+106delinsAAACATT
XM_017029063.2:c.1160+100_1160+106delinsAAACATT XP_016884552.1:n.1160+100_1160+106delinsAAACATT
XM_017029064.2:c.1160+100_1160+106delinsAAACATT XP_016884553.1:n.1160+100_1160+106delinsAAACATT
XM_024452298.1:c.1328+100_1328+106delinsAAACATT XP_024308066.1:n.1328+100_1328+106delinsAAACATT
XM_024452299.1:c.1160+100_1160+106delinsAAACATT XP_024308067.1:n.1160+100_1160+106delinsAAACATT
XM_024452300.1:c.1160+100_1160+106delinsAAACATT XP_024308068.1:n.1160+100_1160+106delinsAAACATT
XR_001755361.2:n.2663+100_2663+106delinsAAACATT
XR_001755364.1:n.2278-4355_2278-4349delinsAAACATT
XR_001755366.2:n.3192+100_3192+106delinsAAACATT
XR_002958721.1:n.2500-4355_2500-4349delinsAAACATT
XR_937947.2:n.2741+100_2741+106delinsAAACATT
NM_001349898.2:c.1955+100_1955+106delinsAAACATT NP_001336827.1:n.1955+100_1955+106delinsAAACATT
NM_001349899.2:c.1955+100_1955+106delinsAAACATT NP_001336828.1:n.1955+100_1955+106delinsAAACATT
NM_001349900.2:c.2009+100_2009+106delinsAAACATT NP_001336829.1:n.2009+100_2009+106delinsAAACATT
NM_001349903.2:c.1714-4355_1714-4349delinsAAACATT NP_001336832.1:n.1714-4355_1714-4349delinsAAACATT
NM_001349904.2:c.1955+100_1955+106delinsAAACATT NP_001336833.1:n.1955+100_1955+106delinsAAACATT
NR_073136.2:n.2210+100_2210+106delinsAAACATT
NR_146311.2:n.2652+100_2652+106delinsAAACATT
NR_146313.2:n.2497+100_2497+106delinsAAACATT
NR_146315.2:n.2568+100_2568+106delinsAAACATT
NM_022081.6:c.1955+100_1955+106delinsAAACATT MANE Select NP_071364.4:n.1955+100_1955+106delinsAAACATT
NR_146316.2:n.2543+100_2543+106delinsAAACATT