Canonical Allele Identifier: CA2655894654
Gene: HPS4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26457966del , CM000684.2:g.26457966del GRCh38
NC_000022.10:g.26853932del , CM000684.1:g.26853932del GRCh37
NC_000022.9:g.25183932del NCBI36
NG_009763.2:g.30900del , LRG_590:g.30900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.1904del ENSP00000415081.3:p.Asn635ThrfsTer19
ENST00000473782.2:c.1850del ENSP00000514223.1:p.Asn617ThrfsTer19
ENST00000483631.2:c.1055del ENSP00000514228.1:p.Asn352ThrfsTer19
ENST00000491142.2:c.1850del ENSP00000514221.1:p.Asn617ThrfsTer19
ENST00000699226.1:n.4776del
ENST00000699227.1:c.*1194del ENSP00000514220.1:n.*1194del
ENST00000699228.1:n.2400del
ENST00000699229.1:n.1267del
ENST00000699230.1:n.2573del
ENST00000699231.1:n.4862del
ENST00000699232.1:n.3206del
ENST00000699233.1:n.1721del
ENST00000699234.1:c.*1194del ENSP00000514222.1:n.*1194del
ENST00000699235.1:c.1055del ENSP00000514224.1:p.Asn352ThrfsTer19
ENST00000699236.1:c.*1039del ENSP00000514225.1:n.*1039del
ENST00000699237.1:c.*1039del ENSP00000514226.1:n.*1039del
ENST00000699238.1:c.*1393del ENSP00000514227.1:n.*1393del
ENST00000699239.1:n.4604del
ENST00000699240.1:c.*1507del ENSP00000514229.1:n.*1507del
ENST00000699241.1:c.*2042del ENSP00000514230.1:n.*2042del
ENST00000699242.1:c.1760del ENSP00000514231.1:p.Asn587ThrfsTer19
ENST00000699243.1:c.*1194del ENSP00000514232.1:n.*1194del
ENST00000699244.1:c.1703del ENSP00000514233.1:p.Asn568ThrfsTer19
ENST00000699245.1:n.1142del
ENST00000699246.1:c.*1221del ENSP00000514234.1:n.*1221del
ENST00000699247.1:c.806del ENSP00000514235.1:p.Asn269ThrfsTer19
ENST00000699248.1:n.3784-4560del
ENST00000699249.1:c.*1058-4560del ENSP00000514236.1:n.*1058-4560del
ENST00000699250.1:c.1714-4560del ENSP00000514237.1:n.1714-4560del
ENST00000699251.1:c.1850del ENSP00000514238.1:p.Asn617ThrfsTer19
ENST00000699252.1:n.2400del
ENST00000398145.7:c.1850del MANE Select ENSP00000381213.2:p.Asn617ThrfsTer19
ENST00000336873.9:c.1850del ENSP00000338457.5:p.Asn617ThrfsTer19
ENST00000398145.6:c.1850del ENSP00000381213.2:p.Asn617ThrfsTer19
ENST00000402105.7:c.1835del ENSP00000384185.3:p.Asn612ThrfsTer19
ENST00000429411.5:c.*1422del ENSP00000399705.1:n.*1422del
ENST00000439453.5:c.*1368del ENSP00000406764.1:n.*1368del
ENST00000464362.5:c.*2181del ENSP00000430291.1:n.*2181del
ENST00000466781.5:n.4709del
ENST00000485842.5:n.541del
ENST00000493455.6:n.413del
ENST00000496385.5:n.2480-4560del
ENST00000519774.5:n.236del
NM_022081.5:c.1850del , LRG_590t1:c.1850del NP_071364.4:p.Asn617ThrfsTer19
NM_152841.2:c.1835del , LRG_590t2:c.1835del NP_690054.1:p.Asn612ThrfsTer19
NR_073135.1:n.2536del
NR_073136.1:n.2298del
XM_006724353.2:c.1904del XP_006724416.1:p.Asn635ThrfsTer19
XM_006724354.2:c.1904del XP_006724417.1:p.Asn635ThrfsTer19
XM_006724360.2:c.1337del XP_006724423.1:p.Asn446ThrfsTer19
XM_011530485.1:c.1982del XP_011528787.1:p.Asn661ThrfsTer19
XM_011530486.1:c.1982del XP_011528788.1:p.Asn661ThrfsTer19
XM_011530487.1:c.1982del XP_011528789.1:p.Asn661ThrfsTer19
XM_011530488.1:c.1982del XP_011528790.1:p.Asn661ThrfsTer19
XM_011530489.1:c.1982del XP_011528791.1:p.Asn661ThrfsTer19
XM_011530490.1:c.1928del XP_011528792.1:p.Asn643ThrfsTer19
XM_011530491.1:c.1982del XP_011528793.1:p.Asn661ThrfsTer19
XM_011530492.1:c.1982del XP_011528794.1:p.Asn661ThrfsTer19
XM_011530493.1:c.1846-4560del XP_011528795.1:n.1846-4560del
XM_011530494.1:c.1190del XP_011528796.1:p.Asn397ThrfsTer19
XM_011530495.1:c.1337del XP_011528797.1:p.Asn446ThrfsTer19
XM_011530496.1:c.1190del XP_011528798.1:p.Asn397ThrfsTer19
XR_937947.1:n.2641del
NM_001349896.1:c.1850del NP_001336825.1:p.Asn617ThrfsTer19
NM_001349898.1:c.1850del NP_001336827.1:p.Asn617ThrfsTer19
NM_001349899.1:c.1850del NP_001336828.1:p.Asn617ThrfsTer19
NM_001349900.1:c.1904del NP_001336829.1:p.Asn635ThrfsTer19
NM_001349901.1:c.1904del NP_001336830.1:p.Asn635ThrfsTer19
NM_001349902.1:c.1714-4560del NP_001336831.1:n.1714-4560del
NM_001349903.1:c.1714-4560del NP_001336832.1:n.1714-4560del
NM_001349904.1:c.1850del NP_001336833.1:p.Asn617ThrfsTer19
NM_001349905.1:c.1850del NP_001336834.1:p.Asn617ThrfsTer19
NR_146311.1:n.2627del
NR_146312.1:n.2452del
NR_146313.1:n.2472del
NR_146314.1:n.2603del
NR_146315.1:n.2543del
NR_146316.1:n.2518del
XM_006724360.3:c.1337del XP_006724423.1:p.Asn446ThrfsTer19
XM_011530485.2:c.1982del XP_011528787.1:p.Asn661ThrfsTer19
XM_011530486.2:c.1982del XP_011528788.1:p.Asn661ThrfsTer19
XM_011530487.2:c.1982del XP_011528789.1:p.Asn661ThrfsTer19
XM_011530488.2:c.1982del XP_011528790.1:p.Asn661ThrfsTer19
XM_011530489.2:c.1982del XP_011528791.1:p.Asn661ThrfsTer19
XM_011530490.3:c.1928del XP_011528792.1:p.Asn643ThrfsTer19
XM_011530491.3:c.1982del XP_011528793.1:p.Asn661ThrfsTer19
XM_011530492.2:c.1982del XP_011528794.1:p.Asn661ThrfsTer19
XM_011530493.3:c.1846-4560del XP_011528795.1:n.1846-4560del
XM_011530494.2:c.1190del XP_011528796.1:p.Asn397ThrfsTer19
XM_011530495.2:c.1337del XP_011528797.1:p.Asn446ThrfsTer19
XM_011530496.2:c.1190del XP_011528798.1:p.Asn397ThrfsTer19
XM_017029045.2:c.1928del XP_016884534.1:p.Asn643ThrfsTer19
XM_017029046.2:c.1850del XP_016884535.1:p.Asn617ThrfsTer19
XM_017029047.2:c.1792-4560del XP_016884536.1:n.1792-4560del
XM_017029052.2:c.1442del XP_016884541.1:p.Asn481ThrfsTer19
XM_017029053.1:c.1427del XP_016884542.1:p.Asn476ThrfsTer19
XM_017029056.2:c.1055del XP_016884545.1:p.Asn352ThrfsTer19
XM_017029061.2:c.1055del XP_016884550.1:p.Asn352ThrfsTer19
XM_017029062.2:c.1055del XP_016884551.1:p.Asn352ThrfsTer19
XM_017029063.2:c.1055del XP_016884552.1:p.Asn352ThrfsTer19
XM_017029064.2:c.1055del XP_016884553.1:p.Asn352ThrfsTer19
XM_024452298.1:c.1223del XP_024308066.1:p.Asn408ThrfsTer19
XM_024452299.1:c.1055del XP_024308067.1:p.Asn352ThrfsTer19
XM_024452300.1:c.1055del XP_024308068.1:p.Asn352ThrfsTer19
XR_001755361.2:n.2558del
XR_001755364.1:n.2278-4560del
XR_001755366.2:n.3087del
XR_002958721.1:n.2500-4560del
XR_937947.2:n.2636del
NM_001349898.2:c.1850del NP_001336827.1:p.Asn617ThrfsTer19
NM_001349899.2:c.1850del NP_001336828.1:p.Asn617ThrfsTer19
NM_001349900.2:c.1904del NP_001336829.1:p.Asn635ThrfsTer19
NM_001349903.2:c.1714-4560del NP_001336832.1:n.1714-4560del
NM_001349904.2:c.1850del NP_001336833.1:p.Asn617ThrfsTer19
NR_073136.2:n.2105del
NR_146311.2:n.2547del
NR_146313.2:n.2392del
NR_146315.2:n.2463del
NM_022081.6:c.1850del MANE Select NP_071364.4:p.Asn617ThrfsTer19
NR_146316.2:n.2438del