Canonical Allele Identifier: CA2399201852
Gene: HPS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26458002_26458017delinsACAGTTACCTTCTGCC , CM000684.2:g.26458002_26458017delinsACAGTTACCTTCTGCC GRCh38
NC_000022.10:g.26853968_26853983delinsACAGTTACCTTCTGCC , CM000684.1:g.26853968_26853983delinsACAGTTACCTTCTGCC GRCh37
NC_000022.9:g.25183968_25183983delinsACAGTTACCTTCTGCC NCBI36
NG_009763.2:g.30847_30862delinsGGCAGAAGGTAACTGT , LRG_590:g.30847_30862delinsGGCAGAAGGTAACTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.1901-50_1901-35delinsGGCAGAAGGTAACTGT ENSP00000415081.3:n.1901-50_1901-35delinsGGCAGAAGGTAACTGT
ENST00000473782.2:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT ENSP00000514223.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
ENST00000483631.2:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT ENSP00000514228.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
ENST00000491142.2:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT ENSP00000514221.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
ENST00000699226.1:n.4773-50_4773-35delinsGGCAGAAGGTAACTGT
ENST00000699227.1:c.*1191-50_*1191-35delinsGGCAGAAGGTAACTGT ENSP00000514220.1:n.*1191-50_*1191-35delinsGGCAGAAGGTAACTGT
ENST00000699228.1:n.2397-50_2397-35delinsGGCAGAAGGTAACTGT
ENST00000699229.1:n.1264-50_1264-35delinsGGCAGAAGGTAACTGT
ENST00000699230.1:n.2570-50_2570-35delinsGGCAGAAGGTAACTGT
ENST00000699231.1:n.4859-50_4859-35delinsGGCAGAAGGTAACTGT
ENST00000699232.1:n.3203-50_3203-35delinsGGCAGAAGGTAACTGT
ENST00000699233.1:n.1718-50_1718-35delinsGGCAGAAGGTAACTGT
ENST00000699234.1:c.*1191-50_*1191-35delinsGGCAGAAGGTAACTGT ENSP00000514222.1:n.*1191-50_*1191-35delinsGGCAGAAGGTAACTGT
ENST00000699235.1:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT ENSP00000514224.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
ENST00000699236.1:c.*1036-50_*1036-35delinsGGCAGAAGGTAACTGT ENSP00000514225.1:n.*1036-50_*1036-35delinsGGCAGAAGGTAACTGT
ENST00000699237.1:c.*1036-50_*1036-35delinsGGCAGAAGGTAACTGT ENSP00000514226.1:n.*1036-50_*1036-35delinsGGCAGAAGGTAACTGT
ENST00000699238.1:c.*1390-50_*1390-35delinsGGCAGAAGGTAACTGT ENSP00000514227.1:n.*1390-50_*1390-35delinsGGCAGAAGGTAACTGT
ENST00000699239.1:n.4601-50_4601-35delinsGGCAGAAGGTAACTGT
ENST00000699240.1:c.*1504-50_*1504-35delinsGGCAGAAGGTAACTGT ENSP00000514229.1:n.*1504-50_*1504-35delinsGGCAGAAGGTAACTGT
ENST00000699241.1:c.*2039-50_*2039-35delinsGGCAGAAGGTAACTGT ENSP00000514230.1:n.*2039-50_*2039-35delinsGGCAGAAGGTAACTGT
ENST00000699242.1:c.1757-50_1757-35delinsGGCAGAAGGTAACTGT ENSP00000514231.1:n.1757-50_1757-35delinsGGCAGAAGGTAACTGT
ENST00000699243.1:c.*1191-50_*1191-35delinsGGCAGAAGGTAACTGT ENSP00000514232.1:n.*1191-50_*1191-35delinsGGCAGAAGGTAACTGT
ENST00000699244.1:c.1700-50_1700-35delinsGGCAGAAGGTAACTGT ENSP00000514233.1:n.1700-50_1700-35delinsGGCAGAAGGTAACTGT
ENST00000699245.1:n.1089_1104delinsGGCAGAAGGTAACTGT
ENST00000699246.1:c.*1218-50_*1218-35delinsGGCAGAAGGTAACTGT ENSP00000514234.1:n.*1218-50_*1218-35delinsGGCAGAAGGTAACTGT
ENST00000699247.1:c.803-50_803-35delinsGGCAGAAGGTAACTGT ENSP00000514235.1:n.803-50_803-35delinsGGCAGAAGGTAACTGT
ENST00000699248.1:n.3784-4613_3784-4598delinsGGCAGAAGGTAACTGT
ENST00000699249.1:c.*1058-4613_*1058-4598delinsGGCAGAAGGTAACTGT ENSP00000514236.1:n.*1058-4613_*1058-4598delinsGGCAGAAGGTAACT...
ENST00000699250.1:c.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT ENSP00000514237.1:n.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT...
ENST00000699251.1:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT ENSP00000514238.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
ENST00000699252.1:n.2397-50_2397-35delinsGGCAGAAGGTAACTGT
ENST00000398145.7:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT MANE Select ENSP00000381213.2:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
ENST00000336873.9:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT ENSP00000338457.5:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
ENST00000398145.6:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT ENSP00000381213.2:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
ENST00000402105.7:c.1832-50_1832-35delinsGGCAGAAGGTAACTGT ENSP00000384185.3:n.1832-50_1832-35delinsGGCAGAAGGTAACTGT
ENST00000429411.5:c.*1419-50_*1419-35delinsGGCAGAAGGTAACTGT ENSP00000399705.1:n.*1419-50_*1419-35delinsGGCAGAAGGTAACTGT
ENST00000439453.5:c.*1365-50_*1365-35delinsGGCAGAAGGTAACTGT ENSP00000406764.1:n.*1365-50_*1365-35delinsGGCAGAAGGTAACTGT
ENST00000464362.5:c.*2178-50_*2178-35delinsGGCAGAAGGTAACTGT ENSP00000430291.1:n.*2178-50_*2178-35delinsGGCAGAAGGTAACTGT
ENST00000466781.5:n.4706-50_4706-35delinsGGCAGAAGGTAACTGT
ENST00000485842.5:n.538-50_538-35delinsGGCAGAAGGTAACTGT
ENST00000493455.6:n.410-50_410-35delinsGGCAGAAGGTAACTGT
ENST00000496385.5:n.2480-4613_2480-4598delinsGGCAGAAGGTAACTGT
ENST00000519774.5:n.233-50_233-35delinsGGCAGAAGGTAACTGT
NM_022081.5:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT , LRG_590t1:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_071364.4:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NM_152841.2:c.1832-50_1832-35delinsGGCAGAAGGTAACTGT , LRG_590t2:c.1832-50_1832-35delinsGGCAGAAGGTAACTGT NP_690054.1:n.1832-50_1832-35delinsGGCAGAAGGTAACTGT
NR_073135.1:n.2533-50_2533-35delinsGGCAGAAGGTAACTGT
NR_073136.1:n.2295-50_2295-35delinsGGCAGAAGGTAACTGT
XM_006724353.2:c.1901-50_1901-35delinsGGCAGAAGGTAACTGT XP_006724416.1:n.1901-50_1901-35delinsGGCAGAAGGTAACTGT
XM_006724354.2:c.1901-50_1901-35delinsGGCAGAAGGTAACTGT XP_006724417.1:n.1901-50_1901-35delinsGGCAGAAGGTAACTGT
XM_006724360.2:c.1334-50_1334-35delinsGGCAGAAGGTAACTGT XP_006724423.1:n.1334-50_1334-35delinsGGCAGAAGGTAACTGT
XM_011530485.1:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528787.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530486.1:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528788.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530487.1:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528789.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530488.1:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528790.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530489.1:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528791.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530490.1:c.1925-50_1925-35delinsGGCAGAAGGTAACTGT XP_011528792.1:n.1925-50_1925-35delinsGGCAGAAGGTAACTGT
XM_011530491.1:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528793.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530492.1:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528794.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530493.1:c.1846-4613_1846-4598delinsGGCAGAAGGTAACTGT XP_011528795.1:n.1846-4613_1846-4598delinsGGCAGAAGGTAACTGT
XM_011530494.1:c.1187-50_1187-35delinsGGCAGAAGGTAACTGT XP_011528796.1:n.1187-50_1187-35delinsGGCAGAAGGTAACTGT
XM_011530495.1:c.1334-50_1334-35delinsGGCAGAAGGTAACTGT XP_011528797.1:n.1334-50_1334-35delinsGGCAGAAGGTAACTGT
XM_011530496.1:c.1187-50_1187-35delinsGGCAGAAGGTAACTGT XP_011528798.1:n.1187-50_1187-35delinsGGCAGAAGGTAACTGT
XR_937947.1:n.2638-50_2638-35delinsGGCAGAAGGTAACTGT
NM_001349896.1:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336825.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NM_001349898.1:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336827.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NM_001349899.1:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336828.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NM_001349900.1:c.1901-50_1901-35delinsGGCAGAAGGTAACTGT NP_001336829.1:n.1901-50_1901-35delinsGGCAGAAGGTAACTGT
NM_001349901.1:c.1901-50_1901-35delinsGGCAGAAGGTAACTGT NP_001336830.1:n.1901-50_1901-35delinsGGCAGAAGGTAACTGT
NM_001349902.1:c.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT NP_001336831.1:n.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT
NM_001349903.1:c.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT NP_001336832.1:n.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT
NM_001349904.1:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336833.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NM_001349905.1:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336834.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NR_146311.1:n.2624-50_2624-35delinsGGCAGAAGGTAACTGT
NR_146312.1:n.2449-50_2449-35delinsGGCAGAAGGTAACTGT
NR_146313.1:n.2469-50_2469-35delinsGGCAGAAGGTAACTGT
NR_146314.1:n.2600-50_2600-35delinsGGCAGAAGGTAACTGT
NR_146315.1:n.2540-50_2540-35delinsGGCAGAAGGTAACTGT
NR_146316.1:n.2515-50_2515-35delinsGGCAGAAGGTAACTGT
XM_006724360.3:c.1334-50_1334-35delinsGGCAGAAGGTAACTGT XP_006724423.1:n.1334-50_1334-35delinsGGCAGAAGGTAACTGT
XM_011530485.2:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528787.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530486.2:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528788.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530487.2:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528789.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530488.2:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528790.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530489.2:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528791.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530490.3:c.1925-50_1925-35delinsGGCAGAAGGTAACTGT XP_011528792.1:n.1925-50_1925-35delinsGGCAGAAGGTAACTGT
XM_011530491.3:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528793.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530492.2:c.1979-50_1979-35delinsGGCAGAAGGTAACTGT XP_011528794.1:n.1979-50_1979-35delinsGGCAGAAGGTAACTGT
XM_011530493.3:c.1846-4613_1846-4598delinsGGCAGAAGGTAACTGT XP_011528795.1:n.1846-4613_1846-4598delinsGGCAGAAGGTAACTGT
XM_011530494.2:c.1187-50_1187-35delinsGGCAGAAGGTAACTGT XP_011528796.1:n.1187-50_1187-35delinsGGCAGAAGGTAACTGT
XM_011530495.2:c.1334-50_1334-35delinsGGCAGAAGGTAACTGT XP_011528797.1:n.1334-50_1334-35delinsGGCAGAAGGTAACTGT
XM_011530496.2:c.1187-50_1187-35delinsGGCAGAAGGTAACTGT XP_011528798.1:n.1187-50_1187-35delinsGGCAGAAGGTAACTGT
XM_017029045.2:c.1925-50_1925-35delinsGGCAGAAGGTAACTGT XP_016884534.1:n.1925-50_1925-35delinsGGCAGAAGGTAACTGT
XM_017029046.2:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT XP_016884535.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
XM_017029047.2:c.1792-4613_1792-4598delinsGGCAGAAGGTAACTGT XP_016884536.1:n.1792-4613_1792-4598delinsGGCAGAAGGTAACTGT
XM_017029052.2:c.1439-50_1439-35delinsGGCAGAAGGTAACTGT XP_016884541.1:n.1439-50_1439-35delinsGGCAGAAGGTAACTGT
XM_017029053.1:c.1424-50_1424-35delinsGGCAGAAGGTAACTGT XP_016884542.1:n.1424-50_1424-35delinsGGCAGAAGGTAACTGT
XM_017029056.2:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT XP_016884545.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
XM_017029061.2:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT XP_016884550.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
XM_017029062.2:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT XP_016884551.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
XM_017029063.2:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT XP_016884552.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
XM_017029064.2:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT XP_016884553.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
XM_024452298.1:c.1220-50_1220-35delinsGGCAGAAGGTAACTGT XP_024308066.1:n.1220-50_1220-35delinsGGCAGAAGGTAACTGT
XM_024452299.1:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT XP_024308067.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
XM_024452300.1:c.1052-50_1052-35delinsGGCAGAAGGTAACTGT XP_024308068.1:n.1052-50_1052-35delinsGGCAGAAGGTAACTGT
XR_001755361.2:n.2555-50_2555-35delinsGGCAGAAGGTAACTGT
XR_001755364.1:n.2278-4613_2278-4598delinsGGCAGAAGGTAACTGT
XR_001755366.2:n.3084-50_3084-35delinsGGCAGAAGGTAACTGT
XR_002958721.1:n.2500-4613_2500-4598delinsGGCAGAAGGTAACTGT
XR_937947.2:n.2633-50_2633-35delinsGGCAGAAGGTAACTGT
NM_001349898.2:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336827.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NM_001349899.2:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336828.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NM_001349900.2:c.1901-50_1901-35delinsGGCAGAAGGTAACTGT NP_001336829.1:n.1901-50_1901-35delinsGGCAGAAGGTAACTGT
NM_001349903.2:c.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT NP_001336832.1:n.1714-4613_1714-4598delinsGGCAGAAGGTAACTGT
NM_001349904.2:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT NP_001336833.1:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NR_073136.2:n.2102-50_2102-35delinsGGCAGAAGGTAACTGT
NR_146311.2:n.2544-50_2544-35delinsGGCAGAAGGTAACTGT
NR_146313.2:n.2389-50_2389-35delinsGGCAGAAGGTAACTGT
NR_146315.2:n.2460-50_2460-35delinsGGCAGAAGGTAACTGT
NM_022081.6:c.1847-50_1847-35delinsGGCAGAAGGTAACTGT MANE Select NP_071364.4:n.1847-50_1847-35delinsGGCAGAAGGTAACTGT
NR_146316.2:n.2435-50_2435-35delinsGGCAGAAGGTAACTGT