Canonical Allele Identifier: CA2655894846

Gene: HPS4

Linked Data

• gnomAD v4: 22-26458083-TGCCCGGGGCAGAGACAAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26458094_26458112del , CM000684.2:g.26458094_26458112del	GRCh38
NC_000022.10:g.26854060_26854078del , CM000684.1:g.26854060_26854078del	GRCh37
NC_000022.9:g.25184060_25184078del	NCBI36
NG_009763.2:g.30762_30780del , LRG_590:g.30762_30780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1901-135_1901-117del	ENSP00000415081.3:n.1901-135_1901-117del
ENST00000473782.2:c.1847-135_1847-117del	ENSP00000514223.1:n.1847-135_1847-117del
ENST00000483631.2:c.1052-135_1052-117del	ENSP00000514228.1:n.1052-135_1052-117del
ENST00000491142.2:c.1847-135_1847-117del	ENSP00000514221.1:n.1847-135_1847-117del
ENST00000699226.1:n.4773-135_4773-117del
ENST00000699227.1:c.*1191-135_*1191-117del	ENSP00000514220.1:n.*1191-135_*1191-117del
ENST00000699228.1:n.2397-135_2397-117del
ENST00000699229.1:n.1264-135_1264-117del
ENST00000699230.1:n.2570-135_2570-117del
ENST00000699231.1:n.4859-135_4859-117del
ENST00000699232.1:n.3203-135_3203-117del
ENST00000699233.1:n.1718-135_1718-117del
ENST00000699234.1:c.*1191-135_*1191-117del	ENSP00000514222.1:n.*1191-135_*1191-117del
ENST00000699235.1:c.1052-135_1052-117del	ENSP00000514224.1:n.1052-135_1052-117del
ENST00000699236.1:c.*1036-135_*1036-117del	ENSP00000514225.1:n.*1036-135_*1036-117del
ENST00000699237.1:c.*1036-135_*1036-117del	ENSP00000514226.1:n.*1036-135_*1036-117del
ENST00000699238.1:c.*1390-135_*1390-117del	ENSP00000514227.1:n.*1390-135_*1390-117del
ENST00000699239.1:n.4601-135_4601-117del
ENST00000699240.1:c.*1504-135_*1504-117del	ENSP00000514229.1:n.*1504-135_*1504-117del
ENST00000699241.1:c.*2039-135_*2039-117del	ENSP00000514230.1:n.*2039-135_*2039-117del
ENST00000699242.1:c.1757-135_1757-117del	ENSP00000514231.1:n.1757-135_1757-117del
ENST00000699243.1:c.*1191-135_*1191-117del	ENSP00000514232.1:n.*1191-135_*1191-117del
ENST00000699244.1:c.1700-135_1700-117del	ENSP00000514233.1:n.1700-135_1700-117del
ENST00000699245.1:n.1004_1022del
ENST00000699246.1:c.*1218-135_*1218-117del	ENSP00000514234.1:n.*1218-135_*1218-117del
ENST00000699247.1:c.803-135_803-117del	ENSP00000514235.1:n.803-135_803-117del
ENST00000699248.1:n.3784-4698_3784-4680del
ENST00000699249.1:c.*1058-4698_*1058-4680del	ENSP00000514236.1:n.*1058-4698_*1058-4680del
ENST00000699250.1:c.1714-4698_1714-4680del	ENSP00000514237.1:n.1714-4698_1714-4680del
ENST00000699251.1:c.1847-135_1847-117del	ENSP00000514238.1:n.1847-135_1847-117del
ENST00000699252.1:n.2397-135_2397-117del
ENST00000398145.7:c.1847-135_1847-117del MANE Select	ENSP00000381213.2:n.1847-135_1847-117del
ENST00000336873.9:c.1847-135_1847-117del	ENSP00000338457.5:n.1847-135_1847-117del
ENST00000398145.6:c.1847-135_1847-117del	ENSP00000381213.2:n.1847-135_1847-117del
ENST00000402105.7:c.1832-135_1832-117del	ENSP00000384185.3:n.1832-135_1832-117del
ENST00000429411.5:c.*1419-135_*1419-117del	ENSP00000399705.1:n.*1419-135_*1419-117del
ENST00000439453.5:c.*1365-135_*1365-117del	ENSP00000406764.1:n.*1365-135_*1365-117del
ENST00000464362.5:c.*2178-135_*2178-117del	ENSP00000430291.1:n.*2178-135_*2178-117del
ENST00000466781.5:n.4706-135_4706-117del
ENST00000485842.5:n.538-135_538-117del
ENST00000493455.6:n.410-135_410-117del
ENST00000496385.5:n.2480-4698_2480-4680del
ENST00000519774.5:n.233-135_233-117del
NM_022081.5:c.1847-135_1847-117del , LRG_590t1:c.1847-135_1847-117del	NP_071364.4:n.1847-135_1847-117del
NM_152841.2:c.1832-135_1832-117del , LRG_590t2:c.1832-135_1832-117del	NP_690054.1:n.1832-135_1832-117del
NR_073135.1:n.2533-135_2533-117del
NR_073136.1:n.2295-135_2295-117del
XM_006724353.2:c.1901-135_1901-117del	XP_006724416.1:n.1901-135_1901-117del
XM_006724354.2:c.1901-135_1901-117del	XP_006724417.1:n.1901-135_1901-117del
XM_006724360.2:c.1334-135_1334-117del	XP_006724423.1:n.1334-135_1334-117del
XM_011530485.1:c.1979-135_1979-117del	XP_011528787.1:n.1979-135_1979-117del
XM_011530486.1:c.1979-135_1979-117del	XP_011528788.1:n.1979-135_1979-117del
XM_011530487.1:c.1979-135_1979-117del	XP_011528789.1:n.1979-135_1979-117del
XM_011530488.1:c.1979-135_1979-117del	XP_011528790.1:n.1979-135_1979-117del
XM_011530489.1:c.1979-135_1979-117del	XP_011528791.1:n.1979-135_1979-117del
XM_011530490.1:c.1925-135_1925-117del	XP_011528792.1:n.1925-135_1925-117del
XM_011530491.1:c.1979-135_1979-117del	XP_011528793.1:n.1979-135_1979-117del
XM_011530492.1:c.1979-135_1979-117del	XP_011528794.1:n.1979-135_1979-117del
XM_011530493.1:c.1846-4698_1846-4680del	XP_011528795.1:n.1846-4698_1846-4680del
XM_011530494.1:c.1187-135_1187-117del	XP_011528796.1:n.1187-135_1187-117del
XM_011530495.1:c.1334-135_1334-117del	XP_011528797.1:n.1334-135_1334-117del
XM_011530496.1:c.1187-135_1187-117del	XP_011528798.1:n.1187-135_1187-117del
XR_937947.1:n.2638-135_2638-117del
NM_001349896.1:c.1847-135_1847-117del	NP_001336825.1:n.1847-135_1847-117del
NM_001349898.1:c.1847-135_1847-117del	NP_001336827.1:n.1847-135_1847-117del
NM_001349899.1:c.1847-135_1847-117del	NP_001336828.1:n.1847-135_1847-117del
NM_001349900.1:c.1901-135_1901-117del	NP_001336829.1:n.1901-135_1901-117del
NM_001349901.1:c.1901-135_1901-117del	NP_001336830.1:n.1901-135_1901-117del
NM_001349902.1:c.1714-4698_1714-4680del	NP_001336831.1:n.1714-4698_1714-4680del
NM_001349903.1:c.1714-4698_1714-4680del	NP_001336832.1:n.1714-4698_1714-4680del
NM_001349904.1:c.1847-135_1847-117del	NP_001336833.1:n.1847-135_1847-117del
NM_001349905.1:c.1847-135_1847-117del	NP_001336834.1:n.1847-135_1847-117del
NR_146311.1:n.2624-135_2624-117del
NR_146312.1:n.2449-135_2449-117del
NR_146313.1:n.2469-135_2469-117del
NR_146314.1:n.2600-135_2600-117del
NR_146315.1:n.2540-135_2540-117del
NR_146316.1:n.2515-135_2515-117del
XM_006724360.3:c.1334-135_1334-117del	XP_006724423.1:n.1334-135_1334-117del
XM_011530485.2:c.1979-135_1979-117del	XP_011528787.1:n.1979-135_1979-117del
XM_011530486.2:c.1979-135_1979-117del	XP_011528788.1:n.1979-135_1979-117del
XM_011530487.2:c.1979-135_1979-117del	XP_011528789.1:n.1979-135_1979-117del
XM_011530488.2:c.1979-135_1979-117del	XP_011528790.1:n.1979-135_1979-117del
XM_011530489.2:c.1979-135_1979-117del	XP_011528791.1:n.1979-135_1979-117del
XM_011530490.3:c.1925-135_1925-117del	XP_011528792.1:n.1925-135_1925-117del
XM_011530491.3:c.1979-135_1979-117del	XP_011528793.1:n.1979-135_1979-117del
XM_011530492.2:c.1979-135_1979-117del	XP_011528794.1:n.1979-135_1979-117del
XM_011530493.3:c.1846-4698_1846-4680del	XP_011528795.1:n.1846-4698_1846-4680del
XM_011530494.2:c.1187-135_1187-117del	XP_011528796.1:n.1187-135_1187-117del
XM_011530495.2:c.1334-135_1334-117del	XP_011528797.1:n.1334-135_1334-117del
XM_011530496.2:c.1187-135_1187-117del	XP_011528798.1:n.1187-135_1187-117del
XM_017029045.2:c.1925-135_1925-117del	XP_016884534.1:n.1925-135_1925-117del
XM_017029046.2:c.1847-135_1847-117del	XP_016884535.1:n.1847-135_1847-117del
XM_017029047.2:c.1792-4698_1792-4680del	XP_016884536.1:n.1792-4698_1792-4680del
XM_017029052.2:c.1439-135_1439-117del	XP_016884541.1:n.1439-135_1439-117del
XM_017029053.1:c.1424-135_1424-117del	XP_016884542.1:n.1424-135_1424-117del
XM_017029056.2:c.1052-135_1052-117del	XP_016884545.1:n.1052-135_1052-117del
XM_017029061.2:c.1052-135_1052-117del	XP_016884550.1:n.1052-135_1052-117del
XM_017029062.2:c.1052-135_1052-117del	XP_016884551.1:n.1052-135_1052-117del
XM_017029063.2:c.1052-135_1052-117del	XP_016884552.1:n.1052-135_1052-117del
XM_017029064.2:c.1052-135_1052-117del	XP_016884553.1:n.1052-135_1052-117del
XM_024452298.1:c.1220-135_1220-117del	XP_024308066.1:n.1220-135_1220-117del
XM_024452299.1:c.1052-135_1052-117del	XP_024308067.1:n.1052-135_1052-117del
XM_024452300.1:c.1052-135_1052-117del	XP_024308068.1:n.1052-135_1052-117del
XR_001755361.2:n.2555-135_2555-117del
XR_001755364.1:n.2278-4698_2278-4680del
XR_001755366.2:n.3084-135_3084-117del
XR_002958721.1:n.2500-4698_2500-4680del
XR_937947.2:n.2633-135_2633-117del
NM_001349898.2:c.1847-135_1847-117del	NP_001336827.1:n.1847-135_1847-117del
NM_001349899.2:c.1847-135_1847-117del	NP_001336828.1:n.1847-135_1847-117del
NM_001349900.2:c.1901-135_1901-117del	NP_001336829.1:n.1901-135_1901-117del
NM_001349903.2:c.1714-4698_1714-4680del	NP_001336832.1:n.1714-4698_1714-4680del
NM_001349904.2:c.1847-135_1847-117del	NP_001336833.1:n.1847-135_1847-117del
NR_073136.2:n.2102-135_2102-117del
NR_146311.2:n.2544-135_2544-117del
NR_146313.2:n.2389-135_2389-117del
NR_146315.2:n.2460-135_2460-117del
NM_022081.6:c.1847-135_1847-117del MANE Select	NP_071364.4:n.1847-135_1847-117del
NR_146316.2:n.2435-135_2435-117del