Canonical Allele Identifier: CA2399201831
Gene: HPS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26457980_26457982delinsGAC , CM000684.2:g.26457980_26457982delinsGAC GRCh38
NC_000022.10:g.26853946_26853948delinsGAC , CM000684.1:g.26853946_26853948delinsGAC GRCh37
NC_000022.9:g.25183946_25183948delinsGAC NCBI36
NG_009763.2:g.30882_30884delinsGTC , LRG_590:g.30882_30884delinsGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.1901-15_1901-13delinsGTC ENSP00000415081.3:n.1901-15_1901-13delinsGTC
ENST00000473782.2:c.1847-15_1847-13delinsGTC ENSP00000514223.1:n.1847-15_1847-13delinsGTC
ENST00000483631.2:c.1052-15_1052-13delinsGTC ENSP00000514228.1:n.1052-15_1052-13delinsGTC
ENST00000491142.2:c.1847-15_1847-13delinsGTC ENSP00000514221.1:n.1847-15_1847-13delinsGTC
ENST00000699226.1:n.4773-15_4773-13delinsGTC
ENST00000699227.1:c.*1191-15_*1191-13delinsGTC ENSP00000514220.1:n.*1191-15_*1191-13delinsGTC
ENST00000699228.1:n.2397-15_2397-13delinsGTC
ENST00000699229.1:n.1264-15_1264-13delinsGTC
ENST00000699230.1:n.2570-15_2570-13delinsGTC
ENST00000699231.1:n.4859-15_4859-13delinsGTC
ENST00000699232.1:n.3203-15_3203-13delinsGTC
ENST00000699233.1:n.1718-15_1718-13delinsGTC
ENST00000699234.1:c.*1191-15_*1191-13delinsGTC ENSP00000514222.1:n.*1191-15_*1191-13delinsGTC
ENST00000699235.1:c.1052-15_1052-13delinsGTC ENSP00000514224.1:n.1052-15_1052-13delinsGTC
ENST00000699236.1:c.*1036-15_*1036-13delinsGTC ENSP00000514225.1:n.*1036-15_*1036-13delinsGTC
ENST00000699237.1:c.*1036-15_*1036-13delinsGTC ENSP00000514226.1:n.*1036-15_*1036-13delinsGTC
ENST00000699238.1:c.*1390-15_*1390-13delinsGTC ENSP00000514227.1:n.*1390-15_*1390-13delinsGTC
ENST00000699239.1:n.4601-15_4601-13delinsGTC
ENST00000699240.1:c.*1504-15_*1504-13delinsGTC ENSP00000514229.1:n.*1504-15_*1504-13delinsGTC
ENST00000699241.1:c.*2039-15_*2039-13delinsGTC ENSP00000514230.1:n.*2039-15_*2039-13delinsGTC
ENST00000699242.1:c.1757-15_1757-13delinsGTC ENSP00000514231.1:n.1757-15_1757-13delinsGTC
ENST00000699243.1:c.*1191-15_*1191-13delinsGTC ENSP00000514232.1:n.*1191-15_*1191-13delinsGTC
ENST00000699244.1:c.1700-15_1700-13delinsGTC ENSP00000514233.1:n.1700-15_1700-13delinsGTC
ENST00000699245.1:n.1124_1126delinsGTC
ENST00000699246.1:c.*1218-15_*1218-13delinsGTC ENSP00000514234.1:n.*1218-15_*1218-13delinsGTC
ENST00000699247.1:c.803-15_803-13delinsGTC ENSP00000514235.1:n.803-15_803-13delinsGTC
ENST00000699248.1:n.3784-4578_3784-4576delinsGTC
ENST00000699249.1:c.*1058-4578_*1058-4576delinsGTC ENSP00000514236.1:n.*1058-4578_*1058-4576delinsGTC
ENST00000699250.1:c.1714-4578_1714-4576delinsGTC ENSP00000514237.1:n.1714-4578_1714-4576delinsGTC
ENST00000699251.1:c.1847-15_1847-13delinsGTC ENSP00000514238.1:n.1847-15_1847-13delinsGTC
ENST00000699252.1:n.2397-15_2397-13delinsGTC
ENST00000398145.7:c.1847-15_1847-13delinsGTC MANE Select ENSP00000381213.2:n.1847-15_1847-13delinsGTC
ENST00000336873.9:c.1847-15_1847-13delinsGTC ENSP00000338457.5:n.1847-15_1847-13delinsGTC
ENST00000398145.6:c.1847-15_1847-13delinsGTC ENSP00000381213.2:n.1847-15_1847-13delinsGTC
ENST00000402105.7:c.1832-15_1832-13delinsGTC ENSP00000384185.3:n.1832-15_1832-13delinsGTC
ENST00000429411.5:c.*1419-15_*1419-13delinsGTC ENSP00000399705.1:n.*1419-15_*1419-13delinsGTC
ENST00000439453.5:c.*1365-15_*1365-13delinsGTC ENSP00000406764.1:n.*1365-15_*1365-13delinsGTC
ENST00000464362.5:c.*2178-15_*2178-13delinsGTC ENSP00000430291.1:n.*2178-15_*2178-13delinsGTC
ENST00000466781.5:n.4706-15_4706-13delinsGTC
ENST00000485842.5:n.538-15_538-13delinsGTC
ENST00000493455.6:n.410-15_410-13delinsGTC
ENST00000496385.5:n.2480-4578_2480-4576delinsGTC
ENST00000519774.5:n.233-15_233-13delinsGTC
NM_022081.5:c.1847-15_1847-13delinsGTC , LRG_590t1:c.1847-15_1847-13delinsGTC NP_071364.4:n.1847-15_1847-13delinsGTC
NM_152841.2:c.1832-15_1832-13delinsGTC , LRG_590t2:c.1832-15_1832-13delinsGTC NP_690054.1:n.1832-15_1832-13delinsGTC
NR_073135.1:n.2533-15_2533-13delinsGTC
NR_073136.1:n.2295-15_2295-13delinsGTC
XM_006724353.2:c.1901-15_1901-13delinsGTC XP_006724416.1:n.1901-15_1901-13delinsGTC
XM_006724354.2:c.1901-15_1901-13delinsGTC XP_006724417.1:n.1901-15_1901-13delinsGTC
XM_006724360.2:c.1334-15_1334-13delinsGTC XP_006724423.1:n.1334-15_1334-13delinsGTC
XM_011530485.1:c.1979-15_1979-13delinsGTC XP_011528787.1:n.1979-15_1979-13delinsGTC
XM_011530486.1:c.1979-15_1979-13delinsGTC XP_011528788.1:n.1979-15_1979-13delinsGTC
XM_011530487.1:c.1979-15_1979-13delinsGTC XP_011528789.1:n.1979-15_1979-13delinsGTC
XM_011530488.1:c.1979-15_1979-13delinsGTC XP_011528790.1:n.1979-15_1979-13delinsGTC
XM_011530489.1:c.1979-15_1979-13delinsGTC XP_011528791.1:n.1979-15_1979-13delinsGTC
XM_011530490.1:c.1925-15_1925-13delinsGTC XP_011528792.1:n.1925-15_1925-13delinsGTC
XM_011530491.1:c.1979-15_1979-13delinsGTC XP_011528793.1:n.1979-15_1979-13delinsGTC
XM_011530492.1:c.1979-15_1979-13delinsGTC XP_011528794.1:n.1979-15_1979-13delinsGTC
XM_011530493.1:c.1846-4578_1846-4576delinsGTC XP_011528795.1:n.1846-4578_1846-4576delinsGTC
XM_011530494.1:c.1187-15_1187-13delinsGTC XP_011528796.1:n.1187-15_1187-13delinsGTC
XM_011530495.1:c.1334-15_1334-13delinsGTC XP_011528797.1:n.1334-15_1334-13delinsGTC
XM_011530496.1:c.1187-15_1187-13delinsGTC XP_011528798.1:n.1187-15_1187-13delinsGTC
XR_937947.1:n.2638-15_2638-13delinsGTC
NM_001349896.1:c.1847-15_1847-13delinsGTC NP_001336825.1:n.1847-15_1847-13delinsGTC
NM_001349898.1:c.1847-15_1847-13delinsGTC NP_001336827.1:n.1847-15_1847-13delinsGTC
NM_001349899.1:c.1847-15_1847-13delinsGTC NP_001336828.1:n.1847-15_1847-13delinsGTC
NM_001349900.1:c.1901-15_1901-13delinsGTC NP_001336829.1:n.1901-15_1901-13delinsGTC
NM_001349901.1:c.1901-15_1901-13delinsGTC NP_001336830.1:n.1901-15_1901-13delinsGTC
NM_001349902.1:c.1714-4578_1714-4576delinsGTC NP_001336831.1:n.1714-4578_1714-4576delinsGTC
NM_001349903.1:c.1714-4578_1714-4576delinsGTC NP_001336832.1:n.1714-4578_1714-4576delinsGTC
NM_001349904.1:c.1847-15_1847-13delinsGTC NP_001336833.1:n.1847-15_1847-13delinsGTC
NM_001349905.1:c.1847-15_1847-13delinsGTC NP_001336834.1:n.1847-15_1847-13delinsGTC
NR_146311.1:n.2624-15_2624-13delinsGTC
NR_146312.1:n.2449-15_2449-13delinsGTC
NR_146313.1:n.2469-15_2469-13delinsGTC
NR_146314.1:n.2600-15_2600-13delinsGTC
NR_146315.1:n.2540-15_2540-13delinsGTC
NR_146316.1:n.2515-15_2515-13delinsGTC
XM_006724360.3:c.1334-15_1334-13delinsGTC XP_006724423.1:n.1334-15_1334-13delinsGTC
XM_011530485.2:c.1979-15_1979-13delinsGTC XP_011528787.1:n.1979-15_1979-13delinsGTC
XM_011530486.2:c.1979-15_1979-13delinsGTC XP_011528788.1:n.1979-15_1979-13delinsGTC
XM_011530487.2:c.1979-15_1979-13delinsGTC XP_011528789.1:n.1979-15_1979-13delinsGTC
XM_011530488.2:c.1979-15_1979-13delinsGTC XP_011528790.1:n.1979-15_1979-13delinsGTC
XM_011530489.2:c.1979-15_1979-13delinsGTC XP_011528791.1:n.1979-15_1979-13delinsGTC
XM_011530490.3:c.1925-15_1925-13delinsGTC XP_011528792.1:n.1925-15_1925-13delinsGTC
XM_011530491.3:c.1979-15_1979-13delinsGTC XP_011528793.1:n.1979-15_1979-13delinsGTC
XM_011530492.2:c.1979-15_1979-13delinsGTC XP_011528794.1:n.1979-15_1979-13delinsGTC
XM_011530493.3:c.1846-4578_1846-4576delinsGTC XP_011528795.1:n.1846-4578_1846-4576delinsGTC
XM_011530494.2:c.1187-15_1187-13delinsGTC XP_011528796.1:n.1187-15_1187-13delinsGTC
XM_011530495.2:c.1334-15_1334-13delinsGTC XP_011528797.1:n.1334-15_1334-13delinsGTC
XM_011530496.2:c.1187-15_1187-13delinsGTC XP_011528798.1:n.1187-15_1187-13delinsGTC
XM_017029045.2:c.1925-15_1925-13delinsGTC XP_016884534.1:n.1925-15_1925-13delinsGTC
XM_017029046.2:c.1847-15_1847-13delinsGTC XP_016884535.1:n.1847-15_1847-13delinsGTC
XM_017029047.2:c.1792-4578_1792-4576delinsGTC XP_016884536.1:n.1792-4578_1792-4576delinsGTC
XM_017029052.2:c.1439-15_1439-13delinsGTC XP_016884541.1:n.1439-15_1439-13delinsGTC
XM_017029053.1:c.1424-15_1424-13delinsGTC XP_016884542.1:n.1424-15_1424-13delinsGTC
XM_017029056.2:c.1052-15_1052-13delinsGTC XP_016884545.1:n.1052-15_1052-13delinsGTC
XM_017029061.2:c.1052-15_1052-13delinsGTC XP_016884550.1:n.1052-15_1052-13delinsGTC
XM_017029062.2:c.1052-15_1052-13delinsGTC XP_016884551.1:n.1052-15_1052-13delinsGTC
XM_017029063.2:c.1052-15_1052-13delinsGTC XP_016884552.1:n.1052-15_1052-13delinsGTC
XM_017029064.2:c.1052-15_1052-13delinsGTC XP_016884553.1:n.1052-15_1052-13delinsGTC
XM_024452298.1:c.1220-15_1220-13delinsGTC XP_024308066.1:n.1220-15_1220-13delinsGTC
XM_024452299.1:c.1052-15_1052-13delinsGTC XP_024308067.1:n.1052-15_1052-13delinsGTC
XM_024452300.1:c.1052-15_1052-13delinsGTC XP_024308068.1:n.1052-15_1052-13delinsGTC
XR_001755361.2:n.2555-15_2555-13delinsGTC
XR_001755364.1:n.2278-4578_2278-4576delinsGTC
XR_001755366.2:n.3084-15_3084-13delinsGTC
XR_002958721.1:n.2500-4578_2500-4576delinsGTC
XR_937947.2:n.2633-15_2633-13delinsGTC
NM_001349898.2:c.1847-15_1847-13delinsGTC NP_001336827.1:n.1847-15_1847-13delinsGTC
NM_001349899.2:c.1847-15_1847-13delinsGTC NP_001336828.1:n.1847-15_1847-13delinsGTC
NM_001349900.2:c.1901-15_1901-13delinsGTC NP_001336829.1:n.1901-15_1901-13delinsGTC
NM_001349903.2:c.1714-4578_1714-4576delinsGTC NP_001336832.1:n.1714-4578_1714-4576delinsGTC
NM_001349904.2:c.1847-15_1847-13delinsGTC NP_001336833.1:n.1847-15_1847-13delinsGTC
NR_073136.2:n.2102-15_2102-13delinsGTC
NR_146311.2:n.2544-15_2544-13delinsGTC
NR_146313.2:n.2389-15_2389-13delinsGTC
NR_146315.2:n.2460-15_2460-13delinsGTC
NM_022081.6:c.1847-15_1847-13delinsGTC MANE Select NP_071364.4:n.1847-15_1847-13delinsGTC
NR_146316.2:n.2435-15_2435-13delinsGTC