Canonical Allele Identifier: CA2655894687
Gene: HPS4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26457992_26457993del , CM000684.2:g.26457992_26457993del GRCh38
NC_000022.10:g.26853958_26853959del , CM000684.1:g.26853958_26853959del GRCh37
NC_000022.9:g.25183958_25183959del NCBI36
NG_009763.2:g.30873_30874del , LRG_590:g.30873_30874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.1901-24_1901-23del ENSP00000415081.3:n.1901-24_1901-23del
ENST00000473782.2:c.1847-24_1847-23del ENSP00000514223.1:n.1847-24_1847-23del
ENST00000483631.2:c.1052-24_1052-23del ENSP00000514228.1:n.1052-24_1052-23del
ENST00000491142.2:c.1847-24_1847-23del ENSP00000514221.1:n.1847-24_1847-23del
ENST00000699226.1:n.4773-24_4773-23del
ENST00000699227.1:c.*1191-24_*1191-23del ENSP00000514220.1:n.*1191-24_*1191-23del
ENST00000699228.1:n.2397-24_2397-23del
ENST00000699229.1:n.1264-24_1264-23del
ENST00000699230.1:n.2570-24_2570-23del
ENST00000699231.1:n.4859-24_4859-23del
ENST00000699232.1:n.3203-24_3203-23del
ENST00000699233.1:n.1718-24_1718-23del
ENST00000699234.1:c.*1191-24_*1191-23del ENSP00000514222.1:n.*1191-24_*1191-23del
ENST00000699235.1:c.1052-24_1052-23del ENSP00000514224.1:n.1052-24_1052-23del
ENST00000699236.1:c.*1036-24_*1036-23del ENSP00000514225.1:n.*1036-24_*1036-23del
ENST00000699237.1:c.*1036-24_*1036-23del ENSP00000514226.1:n.*1036-24_*1036-23del
ENST00000699238.1:c.*1390-24_*1390-23del ENSP00000514227.1:n.*1390-24_*1390-23del
ENST00000699239.1:n.4601-24_4601-23del
ENST00000699240.1:c.*1504-24_*1504-23del ENSP00000514229.1:n.*1504-24_*1504-23del
ENST00000699241.1:c.*2039-24_*2039-23del ENSP00000514230.1:n.*2039-24_*2039-23del
ENST00000699242.1:c.1757-24_1757-23del ENSP00000514231.1:n.1757-24_1757-23del
ENST00000699243.1:c.*1191-24_*1191-23del ENSP00000514232.1:n.*1191-24_*1191-23del
ENST00000699244.1:c.1700-24_1700-23del ENSP00000514233.1:n.1700-24_1700-23del
ENST00000699245.1:n.1115_1116del
ENST00000699246.1:c.*1218-24_*1218-23del ENSP00000514234.1:n.*1218-24_*1218-23del
ENST00000699247.1:c.803-24_803-23del ENSP00000514235.1:n.803-24_803-23del
ENST00000699248.1:n.3784-4587_3784-4586del
ENST00000699249.1:c.*1058-4587_*1058-4586del ENSP00000514236.1:n.*1058-4587_*1058-4586del
ENST00000699250.1:c.1714-4587_1714-4586del ENSP00000514237.1:n.1714-4587_1714-4586del
ENST00000699251.1:c.1847-24_1847-23del ENSP00000514238.1:n.1847-24_1847-23del
ENST00000699252.1:n.2397-24_2397-23del
ENST00000398145.7:c.1847-24_1847-23del MANE Select ENSP00000381213.2:n.1847-24_1847-23del
ENST00000336873.9:c.1847-24_1847-23del ENSP00000338457.5:n.1847-24_1847-23del
ENST00000398145.6:c.1847-24_1847-23del ENSP00000381213.2:n.1847-24_1847-23del
ENST00000402105.7:c.1832-24_1832-23del ENSP00000384185.3:n.1832-24_1832-23del
ENST00000429411.5:c.*1419-24_*1419-23del ENSP00000399705.1:n.*1419-24_*1419-23del
ENST00000439453.5:c.*1365-24_*1365-23del ENSP00000406764.1:n.*1365-24_*1365-23del
ENST00000464362.5:c.*2178-24_*2178-23del ENSP00000430291.1:n.*2178-24_*2178-23del
ENST00000466781.5:n.4706-24_4706-23del
ENST00000485842.5:n.538-24_538-23del
ENST00000493455.6:n.410-24_410-23del
ENST00000496385.5:n.2480-4587_2480-4586del
ENST00000519774.5:n.233-24_233-23del
NM_022081.5:c.1847-24_1847-23del , LRG_590t1:c.1847-24_1847-23del NP_071364.4:n.1847-24_1847-23del
NM_152841.2:c.1832-24_1832-23del , LRG_590t2:c.1832-24_1832-23del NP_690054.1:n.1832-24_1832-23del
NR_073135.1:n.2533-24_2533-23del
NR_073136.1:n.2295-24_2295-23del
XM_006724353.2:c.1901-24_1901-23del XP_006724416.1:n.1901-24_1901-23del
XM_006724354.2:c.1901-24_1901-23del XP_006724417.1:n.1901-24_1901-23del
XM_006724360.2:c.1334-24_1334-23del XP_006724423.1:n.1334-24_1334-23del
XM_011530485.1:c.1979-24_1979-23del XP_011528787.1:n.1979-24_1979-23del
XM_011530486.1:c.1979-24_1979-23del XP_011528788.1:n.1979-24_1979-23del
XM_011530487.1:c.1979-24_1979-23del XP_011528789.1:n.1979-24_1979-23del
XM_011530488.1:c.1979-24_1979-23del XP_011528790.1:n.1979-24_1979-23del
XM_011530489.1:c.1979-24_1979-23del XP_011528791.1:n.1979-24_1979-23del
XM_011530490.1:c.1925-24_1925-23del XP_011528792.1:n.1925-24_1925-23del
XM_011530491.1:c.1979-24_1979-23del XP_011528793.1:n.1979-24_1979-23del
XM_011530492.1:c.1979-24_1979-23del XP_011528794.1:n.1979-24_1979-23del
XM_011530493.1:c.1846-4587_1846-4586del XP_011528795.1:n.1846-4587_1846-4586del
XM_011530494.1:c.1187-24_1187-23del XP_011528796.1:n.1187-24_1187-23del
XM_011530495.1:c.1334-24_1334-23del XP_011528797.1:n.1334-24_1334-23del
XM_011530496.1:c.1187-24_1187-23del XP_011528798.1:n.1187-24_1187-23del
XR_937947.1:n.2638-24_2638-23del
NM_001349896.1:c.1847-24_1847-23del NP_001336825.1:n.1847-24_1847-23del
NM_001349898.1:c.1847-24_1847-23del NP_001336827.1:n.1847-24_1847-23del
NM_001349899.1:c.1847-24_1847-23del NP_001336828.1:n.1847-24_1847-23del
NM_001349900.1:c.1901-24_1901-23del NP_001336829.1:n.1901-24_1901-23del
NM_001349901.1:c.1901-24_1901-23del NP_001336830.1:n.1901-24_1901-23del
NM_001349902.1:c.1714-4587_1714-4586del NP_001336831.1:n.1714-4587_1714-4586del
NM_001349903.1:c.1714-4587_1714-4586del NP_001336832.1:n.1714-4587_1714-4586del
NM_001349904.1:c.1847-24_1847-23del NP_001336833.1:n.1847-24_1847-23del
NM_001349905.1:c.1847-24_1847-23del NP_001336834.1:n.1847-24_1847-23del
NR_146311.1:n.2624-24_2624-23del
NR_146312.1:n.2449-24_2449-23del
NR_146313.1:n.2469-24_2469-23del
NR_146314.1:n.2600-24_2600-23del
NR_146315.1:n.2540-24_2540-23del
NR_146316.1:n.2515-24_2515-23del
XM_006724360.3:c.1334-24_1334-23del XP_006724423.1:n.1334-24_1334-23del
XM_011530485.2:c.1979-24_1979-23del XP_011528787.1:n.1979-24_1979-23del
XM_011530486.2:c.1979-24_1979-23del XP_011528788.1:n.1979-24_1979-23del
XM_011530487.2:c.1979-24_1979-23del XP_011528789.1:n.1979-24_1979-23del
XM_011530488.2:c.1979-24_1979-23del XP_011528790.1:n.1979-24_1979-23del
XM_011530489.2:c.1979-24_1979-23del XP_011528791.1:n.1979-24_1979-23del
XM_011530490.3:c.1925-24_1925-23del XP_011528792.1:n.1925-24_1925-23del
XM_011530491.3:c.1979-24_1979-23del XP_011528793.1:n.1979-24_1979-23del
XM_011530492.2:c.1979-24_1979-23del XP_011528794.1:n.1979-24_1979-23del
XM_011530493.3:c.1846-4587_1846-4586del XP_011528795.1:n.1846-4587_1846-4586del
XM_011530494.2:c.1187-24_1187-23del XP_011528796.1:n.1187-24_1187-23del
XM_011530495.2:c.1334-24_1334-23del XP_011528797.1:n.1334-24_1334-23del
XM_011530496.2:c.1187-24_1187-23del XP_011528798.1:n.1187-24_1187-23del
XM_017029045.2:c.1925-24_1925-23del XP_016884534.1:n.1925-24_1925-23del
XM_017029046.2:c.1847-24_1847-23del XP_016884535.1:n.1847-24_1847-23del
XM_017029047.2:c.1792-4587_1792-4586del XP_016884536.1:n.1792-4587_1792-4586del
XM_017029052.2:c.1439-24_1439-23del XP_016884541.1:n.1439-24_1439-23del
XM_017029053.1:c.1424-24_1424-23del XP_016884542.1:n.1424-24_1424-23del
XM_017029056.2:c.1052-24_1052-23del XP_016884545.1:n.1052-24_1052-23del
XM_017029061.2:c.1052-24_1052-23del XP_016884550.1:n.1052-24_1052-23del
XM_017029062.2:c.1052-24_1052-23del XP_016884551.1:n.1052-24_1052-23del
XM_017029063.2:c.1052-24_1052-23del XP_016884552.1:n.1052-24_1052-23del
XM_017029064.2:c.1052-24_1052-23del XP_016884553.1:n.1052-24_1052-23del
XM_024452298.1:c.1220-24_1220-23del XP_024308066.1:n.1220-24_1220-23del
XM_024452299.1:c.1052-24_1052-23del XP_024308067.1:n.1052-24_1052-23del
XM_024452300.1:c.1052-24_1052-23del XP_024308068.1:n.1052-24_1052-23del
XR_001755361.2:n.2555-24_2555-23del
XR_001755364.1:n.2278-4587_2278-4586del
XR_001755366.2:n.3084-24_3084-23del
XR_002958721.1:n.2500-4587_2500-4586del
XR_937947.2:n.2633-24_2633-23del
NM_001349898.2:c.1847-24_1847-23del NP_001336827.1:n.1847-24_1847-23del
NM_001349899.2:c.1847-24_1847-23del NP_001336828.1:n.1847-24_1847-23del
NM_001349900.2:c.1901-24_1901-23del NP_001336829.1:n.1901-24_1901-23del
NM_001349903.2:c.1714-4587_1714-4586del NP_001336832.1:n.1714-4587_1714-4586del
NM_001349904.2:c.1847-24_1847-23del NP_001336833.1:n.1847-24_1847-23del
NR_073136.2:n.2102-24_2102-23del
NR_146311.2:n.2544-24_2544-23del
NR_146313.2:n.2389-24_2389-23del
NR_146315.2:n.2460-24_2460-23del
NM_022081.6:c.1847-24_1847-23del MANE Select NP_071364.4:n.1847-24_1847-23del
NR_146316.2:n.2435-24_2435-23del