Canonical Allele Identifier: CA2399201897

Gene: HPS4

Linked Data

• dbSNP Id: rs2086502839

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26458089_26458094dup , CM000684.2:g.26458089_26458094dup	GRCh38
NC_000022.10:g.26854055_26854060dup , CM000684.1:g.26854055_26854060dup	GRCh37
NC_000022.9:g.25184055_25184060dup	NCBI36
NG_009763.2:g.30771_30776dup , LRG_590:g.30771_30776dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1901-126_1901-121dup	ENSP00000415081.3:n.1901-126_1901-121dup
ENST00000473782.2:c.1847-126_1847-121dup	ENSP00000514223.1:n.1847-126_1847-121dup
ENST00000483631.2:c.1052-126_1052-121dup	ENSP00000514228.1:n.1052-126_1052-121dup
ENST00000491142.2:c.1847-126_1847-121dup	ENSP00000514221.1:n.1847-126_1847-121dup
ENST00000699226.1:n.4773-126_4773-121dup
ENST00000699227.1:c.*1191-126_*1191-121dup	ENSP00000514220.1:n.*1191-126_*1191-121dup
ENST00000699228.1:n.2397-126_2397-121dup
ENST00000699229.1:n.1264-126_1264-121dup
ENST00000699230.1:n.2570-126_2570-121dup
ENST00000699231.1:n.4859-126_4859-121dup
ENST00000699232.1:n.3203-126_3203-121dup
ENST00000699233.1:n.1718-126_1718-121dup
ENST00000699234.1:c.*1191-126_*1191-121dup	ENSP00000514222.1:n.*1191-126_*1191-121dup
ENST00000699235.1:c.1052-126_1052-121dup	ENSP00000514224.1:n.1052-126_1052-121dup
ENST00000699236.1:c.*1036-126_*1036-121dup	ENSP00000514225.1:n.*1036-126_*1036-121dup
ENST00000699237.1:c.*1036-126_*1036-121dup	ENSP00000514226.1:n.*1036-126_*1036-121dup
ENST00000699238.1:c.*1390-126_*1390-121dup	ENSP00000514227.1:n.*1390-126_*1390-121dup
ENST00000699239.1:n.4601-126_4601-121dup
ENST00000699240.1:c.*1504-126_*1504-121dup	ENSP00000514229.1:n.*1504-126_*1504-121dup
ENST00000699241.1:c.*2039-126_*2039-121dup	ENSP00000514230.1:n.*2039-126_*2039-121dup
ENST00000699242.1:c.1757-126_1757-121dup	ENSP00000514231.1:n.1757-126_1757-121dup
ENST00000699243.1:c.*1191-126_*1191-121dup	ENSP00000514232.1:n.*1191-126_*1191-121dup
ENST00000699244.1:c.1700-126_1700-121dup	ENSP00000514233.1:n.1700-126_1700-121dup
ENST00000699245.1:n.1013_1018dup
ENST00000699246.1:c.*1218-126_*1218-121dup	ENSP00000514234.1:n.*1218-126_*1218-121dup
ENST00000699247.1:c.803-126_803-121dup	ENSP00000514235.1:n.803-126_803-121dup
ENST00000699248.1:n.3784-4689_3784-4684dup
ENST00000699249.1:c.*1058-4689_*1058-4684dup	ENSP00000514236.1:n.*1058-4689_*1058-4684dup
ENST00000699250.1:c.1714-4689_1714-4684dup	ENSP00000514237.1:n.1714-4689_1714-4684dup
ENST00000699251.1:c.1847-126_1847-121dup	ENSP00000514238.1:n.1847-126_1847-121dup
ENST00000699252.1:n.2397-126_2397-121dup
ENST00000398145.7:c.1847-126_1847-121dup MANE Select	ENSP00000381213.2:n.1847-126_1847-121dup
ENST00000336873.9:c.1847-126_1847-121dup	ENSP00000338457.5:n.1847-126_1847-121dup
ENST00000398145.6:c.1847-126_1847-121dup	ENSP00000381213.2:n.1847-126_1847-121dup
ENST00000402105.7:c.1832-126_1832-121dup	ENSP00000384185.3:n.1832-126_1832-121dup
ENST00000429411.5:c.*1419-126_*1419-121dup	ENSP00000399705.1:n.*1419-126_*1419-121dup
ENST00000439453.5:c.*1365-126_*1365-121dup	ENSP00000406764.1:n.*1365-126_*1365-121dup
ENST00000464362.5:c.*2178-126_*2178-121dup	ENSP00000430291.1:n.*2178-126_*2178-121dup
ENST00000466781.5:n.4706-126_4706-121dup
ENST00000485842.5:n.538-126_538-121dup
ENST00000493455.6:n.410-126_410-121dup
ENST00000496385.5:n.2480-4689_2480-4684dup
ENST00000519774.5:n.233-126_233-121dup
NM_022081.5:c.1847-126_1847-121dup , LRG_590t1:c.1847-126_1847-121dup	NP_071364.4:n.1847-126_1847-121dup
NM_152841.2:c.1832-126_1832-121dup , LRG_590t2:c.1832-126_1832-121dup	NP_690054.1:n.1832-126_1832-121dup
NR_073135.1:n.2533-126_2533-121dup
NR_073136.1:n.2295-126_2295-121dup
XM_006724353.2:c.1901-126_1901-121dup	XP_006724416.1:n.1901-126_1901-121dup
XM_006724354.2:c.1901-126_1901-121dup	XP_006724417.1:n.1901-126_1901-121dup
XM_006724360.2:c.1334-126_1334-121dup	XP_006724423.1:n.1334-126_1334-121dup
XM_011530485.1:c.1979-126_1979-121dup	XP_011528787.1:n.1979-126_1979-121dup
XM_011530486.1:c.1979-126_1979-121dup	XP_011528788.1:n.1979-126_1979-121dup
XM_011530487.1:c.1979-126_1979-121dup	XP_011528789.1:n.1979-126_1979-121dup
XM_011530488.1:c.1979-126_1979-121dup	XP_011528790.1:n.1979-126_1979-121dup
XM_011530489.1:c.1979-126_1979-121dup	XP_011528791.1:n.1979-126_1979-121dup
XM_011530490.1:c.1925-126_1925-121dup	XP_011528792.1:n.1925-126_1925-121dup
XM_011530491.1:c.1979-126_1979-121dup	XP_011528793.1:n.1979-126_1979-121dup
XM_011530492.1:c.1979-126_1979-121dup	XP_011528794.1:n.1979-126_1979-121dup
XM_011530493.1:c.1846-4689_1846-4684dup	XP_011528795.1:n.1846-4689_1846-4684dup
XM_011530494.1:c.1187-126_1187-121dup	XP_011528796.1:n.1187-126_1187-121dup
XM_011530495.1:c.1334-126_1334-121dup	XP_011528797.1:n.1334-126_1334-121dup
XM_011530496.1:c.1187-126_1187-121dup	XP_011528798.1:n.1187-126_1187-121dup
XR_937947.1:n.2638-126_2638-121dup
NM_001349896.1:c.1847-126_1847-121dup	NP_001336825.1:n.1847-126_1847-121dup
NM_001349898.1:c.1847-126_1847-121dup	NP_001336827.1:n.1847-126_1847-121dup
NM_001349899.1:c.1847-126_1847-121dup	NP_001336828.1:n.1847-126_1847-121dup
NM_001349900.1:c.1901-126_1901-121dup	NP_001336829.1:n.1901-126_1901-121dup
NM_001349901.1:c.1901-126_1901-121dup	NP_001336830.1:n.1901-126_1901-121dup
NM_001349902.1:c.1714-4689_1714-4684dup	NP_001336831.1:n.1714-4689_1714-4684dup
NM_001349903.1:c.1714-4689_1714-4684dup	NP_001336832.1:n.1714-4689_1714-4684dup
NM_001349904.1:c.1847-126_1847-121dup	NP_001336833.1:n.1847-126_1847-121dup
NM_001349905.1:c.1847-126_1847-121dup	NP_001336834.1:n.1847-126_1847-121dup
NR_146311.1:n.2624-126_2624-121dup
NR_146312.1:n.2449-126_2449-121dup
NR_146313.1:n.2469-126_2469-121dup
NR_146314.1:n.2600-126_2600-121dup
NR_146315.1:n.2540-126_2540-121dup
NR_146316.1:n.2515-126_2515-121dup
XM_006724360.3:c.1334-126_1334-121dup	XP_006724423.1:n.1334-126_1334-121dup
XM_011530485.2:c.1979-126_1979-121dup	XP_011528787.1:n.1979-126_1979-121dup
XM_011530486.2:c.1979-126_1979-121dup	XP_011528788.1:n.1979-126_1979-121dup
XM_011530487.2:c.1979-126_1979-121dup	XP_011528789.1:n.1979-126_1979-121dup
XM_011530488.2:c.1979-126_1979-121dup	XP_011528790.1:n.1979-126_1979-121dup
XM_011530489.2:c.1979-126_1979-121dup	XP_011528791.1:n.1979-126_1979-121dup
XM_011530490.3:c.1925-126_1925-121dup	XP_011528792.1:n.1925-126_1925-121dup
XM_011530491.3:c.1979-126_1979-121dup	XP_011528793.1:n.1979-126_1979-121dup
XM_011530492.2:c.1979-126_1979-121dup	XP_011528794.1:n.1979-126_1979-121dup
XM_011530493.3:c.1846-4689_1846-4684dup	XP_011528795.1:n.1846-4689_1846-4684dup
XM_011530494.2:c.1187-126_1187-121dup	XP_011528796.1:n.1187-126_1187-121dup
XM_011530495.2:c.1334-126_1334-121dup	XP_011528797.1:n.1334-126_1334-121dup
XM_011530496.2:c.1187-126_1187-121dup	XP_011528798.1:n.1187-126_1187-121dup
XM_017029045.2:c.1925-126_1925-121dup	XP_016884534.1:n.1925-126_1925-121dup
XM_017029046.2:c.1847-126_1847-121dup	XP_016884535.1:n.1847-126_1847-121dup
XM_017029047.2:c.1792-4689_1792-4684dup	XP_016884536.1:n.1792-4689_1792-4684dup
XM_017029052.2:c.1439-126_1439-121dup	XP_016884541.1:n.1439-126_1439-121dup
XM_017029053.1:c.1424-126_1424-121dup	XP_016884542.1:n.1424-126_1424-121dup
XM_017029056.2:c.1052-126_1052-121dup	XP_016884545.1:n.1052-126_1052-121dup
XM_017029061.2:c.1052-126_1052-121dup	XP_016884550.1:n.1052-126_1052-121dup
XM_017029062.2:c.1052-126_1052-121dup	XP_016884551.1:n.1052-126_1052-121dup
XM_017029063.2:c.1052-126_1052-121dup	XP_016884552.1:n.1052-126_1052-121dup
XM_017029064.2:c.1052-126_1052-121dup	XP_016884553.1:n.1052-126_1052-121dup
XM_024452298.1:c.1220-126_1220-121dup	XP_024308066.1:n.1220-126_1220-121dup
XM_024452299.1:c.1052-126_1052-121dup	XP_024308067.1:n.1052-126_1052-121dup
XM_024452300.1:c.1052-126_1052-121dup	XP_024308068.1:n.1052-126_1052-121dup
XR_001755361.2:n.2555-126_2555-121dup
XR_001755364.1:n.2278-4689_2278-4684dup
XR_001755366.2:n.3084-126_3084-121dup
XR_002958721.1:n.2500-4689_2500-4684dup
XR_937947.2:n.2633-126_2633-121dup
NM_001349898.2:c.1847-126_1847-121dup	NP_001336827.1:n.1847-126_1847-121dup
NM_001349899.2:c.1847-126_1847-121dup	NP_001336828.1:n.1847-126_1847-121dup
NM_001349900.2:c.1901-126_1901-121dup	NP_001336829.1:n.1901-126_1901-121dup
NM_001349903.2:c.1714-4689_1714-4684dup	NP_001336832.1:n.1714-4689_1714-4684dup
NM_001349904.2:c.1847-126_1847-121dup	NP_001336833.1:n.1847-126_1847-121dup
NR_073136.2:n.2102-126_2102-121dup
NR_146311.2:n.2544-126_2544-121dup
NR_146313.2:n.2389-126_2389-121dup
NR_146315.2:n.2460-126_2460-121dup
NM_022081.6:c.1847-126_1847-121dup MANE Select	NP_071364.4:n.1847-126_1847-121dup
NR_146316.2:n.2435-126_2435-121dup