Canonical Allele Identifier: CA2655894724
Gene: HPS4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26458011_26458012insG , CM000684.2:g.26458011_26458012insG GRCh38
NC_000022.10:g.26853977_26853978insG , CM000684.1:g.26853977_26853978insG GRCh37
NC_000022.9:g.25183977_25183978insG NCBI36
NG_009763.2:g.30852_30853insC , LRG_590:g.30852_30853insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.1901-45_1901-44insC ENSP00000415081.3:n.1901-45_1901-44insC
ENST00000473782.2:c.1847-45_1847-44insC ENSP00000514223.1:n.1847-45_1847-44insC
ENST00000483631.2:c.1052-45_1052-44insC ENSP00000514228.1:n.1052-45_1052-44insC
ENST00000491142.2:c.1847-45_1847-44insC ENSP00000514221.1:n.1847-45_1847-44insC
ENST00000699226.1:n.4773-45_4773-44insC
ENST00000699227.1:c.*1191-45_*1191-44insC ENSP00000514220.1:n.*1191-45_*1191-44insC
ENST00000699228.1:n.2397-45_2397-44insC
ENST00000699229.1:n.1264-45_1264-44insC
ENST00000699230.1:n.2570-45_2570-44insC
ENST00000699231.1:n.4859-45_4859-44insC
ENST00000699232.1:n.3203-45_3203-44insC
ENST00000699233.1:n.1718-45_1718-44insC
ENST00000699234.1:c.*1191-45_*1191-44insC ENSP00000514222.1:n.*1191-45_*1191-44insC
ENST00000699235.1:c.1052-45_1052-44insC ENSP00000514224.1:n.1052-45_1052-44insC
ENST00000699236.1:c.*1036-45_*1036-44insC ENSP00000514225.1:n.*1036-45_*1036-44insC
ENST00000699237.1:c.*1036-45_*1036-44insC ENSP00000514226.1:n.*1036-45_*1036-44insC
ENST00000699238.1:c.*1390-45_*1390-44insC ENSP00000514227.1:n.*1390-45_*1390-44insC
ENST00000699239.1:n.4601-45_4601-44insC
ENST00000699240.1:c.*1504-45_*1504-44insC ENSP00000514229.1:n.*1504-45_*1504-44insC
ENST00000699241.1:c.*2039-45_*2039-44insC ENSP00000514230.1:n.*2039-45_*2039-44insC
ENST00000699242.1:c.1757-45_1757-44insC ENSP00000514231.1:n.1757-45_1757-44insC
ENST00000699243.1:c.*1191-45_*1191-44insC ENSP00000514232.1:n.*1191-45_*1191-44insC
ENST00000699244.1:c.1700-45_1700-44insC ENSP00000514233.1:n.1700-45_1700-44insC
ENST00000699245.1:n.1094_1095insC
ENST00000699246.1:c.*1218-45_*1218-44insC ENSP00000514234.1:n.*1218-45_*1218-44insC
ENST00000699247.1:c.803-45_803-44insC ENSP00000514235.1:n.803-45_803-44insC
ENST00000699248.1:n.3784-4608_3784-4607insC
ENST00000699249.1:c.*1058-4608_*1058-4607insC ENSP00000514236.1:n.*1058-4608_*1058-4607insC
ENST00000699250.1:c.1714-4608_1714-4607insC ENSP00000514237.1:n.1714-4608_1714-4607insC
ENST00000699251.1:c.1847-45_1847-44insC ENSP00000514238.1:n.1847-45_1847-44insC
ENST00000699252.1:n.2397-45_2397-44insC
ENST00000398145.7:c.1847-45_1847-44insC MANE Select ENSP00000381213.2:n.1847-45_1847-44insC
ENST00000336873.9:c.1847-45_1847-44insC ENSP00000338457.5:n.1847-45_1847-44insC
ENST00000398145.6:c.1847-45_1847-44insC ENSP00000381213.2:n.1847-45_1847-44insC
ENST00000402105.7:c.1832-45_1832-44insC ENSP00000384185.3:n.1832-45_1832-44insC
ENST00000429411.5:c.*1419-45_*1419-44insC ENSP00000399705.1:n.*1419-45_*1419-44insC
ENST00000439453.5:c.*1365-45_*1365-44insC ENSP00000406764.1:n.*1365-45_*1365-44insC
ENST00000464362.5:c.*2178-45_*2178-44insC ENSP00000430291.1:n.*2178-45_*2178-44insC
ENST00000466781.5:n.4706-45_4706-44insC
ENST00000485842.5:n.538-45_538-44insC
ENST00000493455.6:n.410-45_410-44insC
ENST00000496385.5:n.2480-4608_2480-4607insC
ENST00000519774.5:n.233-45_233-44insC
NM_022081.5:c.1847-45_1847-44insC , LRG_590t1:c.1847-45_1847-44insC NP_071364.4:n.1847-45_1847-44insC
NM_152841.2:c.1832-45_1832-44insC , LRG_590t2:c.1832-45_1832-44insC NP_690054.1:n.1832-45_1832-44insC
NR_073135.1:n.2533-45_2533-44insC
NR_073136.1:n.2295-45_2295-44insC
XM_006724353.2:c.1901-45_1901-44insC XP_006724416.1:n.1901-45_1901-44insC
XM_006724354.2:c.1901-45_1901-44insC XP_006724417.1:n.1901-45_1901-44insC
XM_006724360.2:c.1334-45_1334-44insC XP_006724423.1:n.1334-45_1334-44insC
XM_011530485.1:c.1979-45_1979-44insC XP_011528787.1:n.1979-45_1979-44insC
XM_011530486.1:c.1979-45_1979-44insC XP_011528788.1:n.1979-45_1979-44insC
XM_011530487.1:c.1979-45_1979-44insC XP_011528789.1:n.1979-45_1979-44insC
XM_011530488.1:c.1979-45_1979-44insC XP_011528790.1:n.1979-45_1979-44insC
XM_011530489.1:c.1979-45_1979-44insC XP_011528791.1:n.1979-45_1979-44insC
XM_011530490.1:c.1925-45_1925-44insC XP_011528792.1:n.1925-45_1925-44insC
XM_011530491.1:c.1979-45_1979-44insC XP_011528793.1:n.1979-45_1979-44insC
XM_011530492.1:c.1979-45_1979-44insC XP_011528794.1:n.1979-45_1979-44insC
XM_011530493.1:c.1846-4608_1846-4607insC XP_011528795.1:n.1846-4608_1846-4607insC
XM_011530494.1:c.1187-45_1187-44insC XP_011528796.1:n.1187-45_1187-44insC
XM_011530495.1:c.1334-45_1334-44insC XP_011528797.1:n.1334-45_1334-44insC
XM_011530496.1:c.1187-45_1187-44insC XP_011528798.1:n.1187-45_1187-44insC
XR_937947.1:n.2638-45_2638-44insC
NM_001349896.1:c.1847-45_1847-44insC NP_001336825.1:n.1847-45_1847-44insC
NM_001349898.1:c.1847-45_1847-44insC NP_001336827.1:n.1847-45_1847-44insC
NM_001349899.1:c.1847-45_1847-44insC NP_001336828.1:n.1847-45_1847-44insC
NM_001349900.1:c.1901-45_1901-44insC NP_001336829.1:n.1901-45_1901-44insC
NM_001349901.1:c.1901-45_1901-44insC NP_001336830.1:n.1901-45_1901-44insC
NM_001349902.1:c.1714-4608_1714-4607insC NP_001336831.1:n.1714-4608_1714-4607insC
NM_001349903.1:c.1714-4608_1714-4607insC NP_001336832.1:n.1714-4608_1714-4607insC
NM_001349904.1:c.1847-45_1847-44insC NP_001336833.1:n.1847-45_1847-44insC
NM_001349905.1:c.1847-45_1847-44insC NP_001336834.1:n.1847-45_1847-44insC
NR_146311.1:n.2624-45_2624-44insC
NR_146312.1:n.2449-45_2449-44insC
NR_146313.1:n.2469-45_2469-44insC
NR_146314.1:n.2600-45_2600-44insC
NR_146315.1:n.2540-45_2540-44insC
NR_146316.1:n.2515-45_2515-44insC
XM_006724360.3:c.1334-45_1334-44insC XP_006724423.1:n.1334-45_1334-44insC
XM_011530485.2:c.1979-45_1979-44insC XP_011528787.1:n.1979-45_1979-44insC
XM_011530486.2:c.1979-45_1979-44insC XP_011528788.1:n.1979-45_1979-44insC
XM_011530487.2:c.1979-45_1979-44insC XP_011528789.1:n.1979-45_1979-44insC
XM_011530488.2:c.1979-45_1979-44insC XP_011528790.1:n.1979-45_1979-44insC
XM_011530489.2:c.1979-45_1979-44insC XP_011528791.1:n.1979-45_1979-44insC
XM_011530490.3:c.1925-45_1925-44insC XP_011528792.1:n.1925-45_1925-44insC
XM_011530491.3:c.1979-45_1979-44insC XP_011528793.1:n.1979-45_1979-44insC
XM_011530492.2:c.1979-45_1979-44insC XP_011528794.1:n.1979-45_1979-44insC
XM_011530493.3:c.1846-4608_1846-4607insC XP_011528795.1:n.1846-4608_1846-4607insC
XM_011530494.2:c.1187-45_1187-44insC XP_011528796.1:n.1187-45_1187-44insC
XM_011530495.2:c.1334-45_1334-44insC XP_011528797.1:n.1334-45_1334-44insC
XM_011530496.2:c.1187-45_1187-44insC XP_011528798.1:n.1187-45_1187-44insC
XM_017029045.2:c.1925-45_1925-44insC XP_016884534.1:n.1925-45_1925-44insC
XM_017029046.2:c.1847-45_1847-44insC XP_016884535.1:n.1847-45_1847-44insC
XM_017029047.2:c.1792-4608_1792-4607insC XP_016884536.1:n.1792-4608_1792-4607insC
XM_017029052.2:c.1439-45_1439-44insC XP_016884541.1:n.1439-45_1439-44insC
XM_017029053.1:c.1424-45_1424-44insC XP_016884542.1:n.1424-45_1424-44insC
XM_017029056.2:c.1052-45_1052-44insC XP_016884545.1:n.1052-45_1052-44insC
XM_017029061.2:c.1052-45_1052-44insC XP_016884550.1:n.1052-45_1052-44insC
XM_017029062.2:c.1052-45_1052-44insC XP_016884551.1:n.1052-45_1052-44insC
XM_017029063.2:c.1052-45_1052-44insC XP_016884552.1:n.1052-45_1052-44insC
XM_017029064.2:c.1052-45_1052-44insC XP_016884553.1:n.1052-45_1052-44insC
XM_024452298.1:c.1220-45_1220-44insC XP_024308066.1:n.1220-45_1220-44insC
XM_024452299.1:c.1052-45_1052-44insC XP_024308067.1:n.1052-45_1052-44insC
XM_024452300.1:c.1052-45_1052-44insC XP_024308068.1:n.1052-45_1052-44insC
XR_001755361.2:n.2555-45_2555-44insC
XR_001755364.1:n.2278-4608_2278-4607insC
XR_001755366.2:n.3084-45_3084-44insC
XR_002958721.1:n.2500-4608_2500-4607insC
XR_937947.2:n.2633-45_2633-44insC
NM_001349898.2:c.1847-45_1847-44insC NP_001336827.1:n.1847-45_1847-44insC
NM_001349899.2:c.1847-45_1847-44insC NP_001336828.1:n.1847-45_1847-44insC
NM_001349900.2:c.1901-45_1901-44insC NP_001336829.1:n.1901-45_1901-44insC
NM_001349903.2:c.1714-4608_1714-4607insC NP_001336832.1:n.1714-4608_1714-4607insC
NM_001349904.2:c.1847-45_1847-44insC NP_001336833.1:n.1847-45_1847-44insC
NR_073136.2:n.2102-45_2102-44insC
NR_146311.2:n.2544-45_2544-44insC
NR_146313.2:n.2389-45_2389-44insC
NR_146315.2:n.2460-45_2460-44insC
NM_022081.6:c.1847-45_1847-44insC MANE Select NP_071364.4:n.1847-45_1847-44insC
NR_146316.2:n.2435-45_2435-44insC