Canonical Allele Identifier: CA2655894792

Gene: HPS4

Linked Data

• gnomAD v4: 22-26458044-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26458047_26458048del , CM000684.2:g.26458047_26458048del	GRCh38
NC_000022.10:g.26854013_26854014del , CM000684.1:g.26854013_26854014del	GRCh37
NC_000022.9:g.25184013_25184014del	NCBI36
NG_009763.2:g.30818_30819del , LRG_590:g.30818_30819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1901-79_1901-78del	ENSP00000415081.3:n.1901-79_1901-78del
ENST00000473782.2:c.1847-79_1847-78del	ENSP00000514223.1:n.1847-79_1847-78del
ENST00000483631.2:c.1052-79_1052-78del	ENSP00000514228.1:n.1052-79_1052-78del
ENST00000491142.2:c.1847-79_1847-78del	ENSP00000514221.1:n.1847-79_1847-78del
ENST00000699226.1:n.4773-79_4773-78del
ENST00000699227.1:c.*1191-79_*1191-78del	ENSP00000514220.1:n.*1191-79_*1191-78del
ENST00000699228.1:n.2397-79_2397-78del
ENST00000699229.1:n.1264-79_1264-78del
ENST00000699230.1:n.2570-79_2570-78del
ENST00000699231.1:n.4859-79_4859-78del
ENST00000699232.1:n.3203-79_3203-78del
ENST00000699233.1:n.1718-79_1718-78del
ENST00000699234.1:c.*1191-79_*1191-78del	ENSP00000514222.1:n.*1191-79_*1191-78del
ENST00000699235.1:c.1052-79_1052-78del	ENSP00000514224.1:n.1052-79_1052-78del
ENST00000699236.1:c.*1036-79_*1036-78del	ENSP00000514225.1:n.*1036-79_*1036-78del
ENST00000699237.1:c.*1036-79_*1036-78del	ENSP00000514226.1:n.*1036-79_*1036-78del
ENST00000699238.1:c.*1390-79_*1390-78del	ENSP00000514227.1:n.*1390-79_*1390-78del
ENST00000699239.1:n.4601-79_4601-78del
ENST00000699240.1:c.*1504-79_*1504-78del	ENSP00000514229.1:n.*1504-79_*1504-78del
ENST00000699241.1:c.*2039-79_*2039-78del	ENSP00000514230.1:n.*2039-79_*2039-78del
ENST00000699242.1:c.1757-79_1757-78del	ENSP00000514231.1:n.1757-79_1757-78del
ENST00000699243.1:c.*1191-79_*1191-78del	ENSP00000514232.1:n.*1191-79_*1191-78del
ENST00000699244.1:c.1700-79_1700-78del	ENSP00000514233.1:n.1700-79_1700-78del
ENST00000699245.1:n.1060_1061del
ENST00000699246.1:c.*1218-79_*1218-78del	ENSP00000514234.1:n.*1218-79_*1218-78del
ENST00000699247.1:c.803-79_803-78del	ENSP00000514235.1:n.803-79_803-78del
ENST00000699248.1:n.3784-4642_3784-4641del
ENST00000699249.1:c.*1058-4642_*1058-4641del	ENSP00000514236.1:n.*1058-4642_*1058-4641del
ENST00000699250.1:c.1714-4642_1714-4641del	ENSP00000514237.1:n.1714-4642_1714-4641del
ENST00000699251.1:c.1847-79_1847-78del	ENSP00000514238.1:n.1847-79_1847-78del
ENST00000699252.1:n.2397-79_2397-78del
ENST00000398145.7:c.1847-79_1847-78del MANE Select	ENSP00000381213.2:n.1847-79_1847-78del
ENST00000336873.9:c.1847-79_1847-78del	ENSP00000338457.5:n.1847-79_1847-78del
ENST00000398145.6:c.1847-79_1847-78del	ENSP00000381213.2:n.1847-79_1847-78del
ENST00000402105.7:c.1832-79_1832-78del	ENSP00000384185.3:n.1832-79_1832-78del
ENST00000429411.5:c.*1419-79_*1419-78del	ENSP00000399705.1:n.*1419-79_*1419-78del
ENST00000439453.5:c.*1365-79_*1365-78del	ENSP00000406764.1:n.*1365-79_*1365-78del
ENST00000464362.5:c.*2178-79_*2178-78del	ENSP00000430291.1:n.*2178-79_*2178-78del
ENST00000466781.5:n.4706-79_4706-78del
ENST00000485842.5:n.538-79_538-78del
ENST00000493455.6:n.410-79_410-78del
ENST00000496385.5:n.2480-4642_2480-4641del
ENST00000519774.5:n.233-79_233-78del
NM_022081.5:c.1847-79_1847-78del , LRG_590t1:c.1847-79_1847-78del	NP_071364.4:n.1847-79_1847-78del
NM_152841.2:c.1832-79_1832-78del , LRG_590t2:c.1832-79_1832-78del	NP_690054.1:n.1832-79_1832-78del
NR_073135.1:n.2533-79_2533-78del
NR_073136.1:n.2295-79_2295-78del
XM_006724353.2:c.1901-79_1901-78del	XP_006724416.1:n.1901-79_1901-78del
XM_006724354.2:c.1901-79_1901-78del	XP_006724417.1:n.1901-79_1901-78del
XM_006724360.2:c.1334-79_1334-78del	XP_006724423.1:n.1334-79_1334-78del
XM_011530485.1:c.1979-79_1979-78del	XP_011528787.1:n.1979-79_1979-78del
XM_011530486.1:c.1979-79_1979-78del	XP_011528788.1:n.1979-79_1979-78del
XM_011530487.1:c.1979-79_1979-78del	XP_011528789.1:n.1979-79_1979-78del
XM_011530488.1:c.1979-79_1979-78del	XP_011528790.1:n.1979-79_1979-78del
XM_011530489.1:c.1979-79_1979-78del	XP_011528791.1:n.1979-79_1979-78del
XM_011530490.1:c.1925-79_1925-78del	XP_011528792.1:n.1925-79_1925-78del
XM_011530491.1:c.1979-79_1979-78del	XP_011528793.1:n.1979-79_1979-78del
XM_011530492.1:c.1979-79_1979-78del	XP_011528794.1:n.1979-79_1979-78del
XM_011530493.1:c.1846-4642_1846-4641del	XP_011528795.1:n.1846-4642_1846-4641del
XM_011530494.1:c.1187-79_1187-78del	XP_011528796.1:n.1187-79_1187-78del
XM_011530495.1:c.1334-79_1334-78del	XP_011528797.1:n.1334-79_1334-78del
XM_011530496.1:c.1187-79_1187-78del	XP_011528798.1:n.1187-79_1187-78del
XR_937947.1:n.2638-79_2638-78del
NM_001349896.1:c.1847-79_1847-78del	NP_001336825.1:n.1847-79_1847-78del
NM_001349898.1:c.1847-79_1847-78del	NP_001336827.1:n.1847-79_1847-78del
NM_001349899.1:c.1847-79_1847-78del	NP_001336828.1:n.1847-79_1847-78del
NM_001349900.1:c.1901-79_1901-78del	NP_001336829.1:n.1901-79_1901-78del
NM_001349901.1:c.1901-79_1901-78del	NP_001336830.1:n.1901-79_1901-78del
NM_001349902.1:c.1714-4642_1714-4641del	NP_001336831.1:n.1714-4642_1714-4641del
NM_001349903.1:c.1714-4642_1714-4641del	NP_001336832.1:n.1714-4642_1714-4641del
NM_001349904.1:c.1847-79_1847-78del	NP_001336833.1:n.1847-79_1847-78del
NM_001349905.1:c.1847-79_1847-78del	NP_001336834.1:n.1847-79_1847-78del
NR_146311.1:n.2624-79_2624-78del
NR_146312.1:n.2449-79_2449-78del
NR_146313.1:n.2469-79_2469-78del
NR_146314.1:n.2600-79_2600-78del
NR_146315.1:n.2540-79_2540-78del
NR_146316.1:n.2515-79_2515-78del
XM_006724360.3:c.1334-79_1334-78del	XP_006724423.1:n.1334-79_1334-78del
XM_011530485.2:c.1979-79_1979-78del	XP_011528787.1:n.1979-79_1979-78del
XM_011530486.2:c.1979-79_1979-78del	XP_011528788.1:n.1979-79_1979-78del
XM_011530487.2:c.1979-79_1979-78del	XP_011528789.1:n.1979-79_1979-78del
XM_011530488.2:c.1979-79_1979-78del	XP_011528790.1:n.1979-79_1979-78del
XM_011530489.2:c.1979-79_1979-78del	XP_011528791.1:n.1979-79_1979-78del
XM_011530490.3:c.1925-79_1925-78del	XP_011528792.1:n.1925-79_1925-78del
XM_011530491.3:c.1979-79_1979-78del	XP_011528793.1:n.1979-79_1979-78del
XM_011530492.2:c.1979-79_1979-78del	XP_011528794.1:n.1979-79_1979-78del
XM_011530493.3:c.1846-4642_1846-4641del	XP_011528795.1:n.1846-4642_1846-4641del
XM_011530494.2:c.1187-79_1187-78del	XP_011528796.1:n.1187-79_1187-78del
XM_011530495.2:c.1334-79_1334-78del	XP_011528797.1:n.1334-79_1334-78del
XM_011530496.2:c.1187-79_1187-78del	XP_011528798.1:n.1187-79_1187-78del
XM_017029045.2:c.1925-79_1925-78del	XP_016884534.1:n.1925-79_1925-78del
XM_017029046.2:c.1847-79_1847-78del	XP_016884535.1:n.1847-79_1847-78del
XM_017029047.2:c.1792-4642_1792-4641del	XP_016884536.1:n.1792-4642_1792-4641del
XM_017029052.2:c.1439-79_1439-78del	XP_016884541.1:n.1439-79_1439-78del
XM_017029053.1:c.1424-79_1424-78del	XP_016884542.1:n.1424-79_1424-78del
XM_017029056.2:c.1052-79_1052-78del	XP_016884545.1:n.1052-79_1052-78del
XM_017029061.2:c.1052-79_1052-78del	XP_016884550.1:n.1052-79_1052-78del
XM_017029062.2:c.1052-79_1052-78del	XP_016884551.1:n.1052-79_1052-78del
XM_017029063.2:c.1052-79_1052-78del	XP_016884552.1:n.1052-79_1052-78del
XM_017029064.2:c.1052-79_1052-78del	XP_016884553.1:n.1052-79_1052-78del
XM_024452298.1:c.1220-79_1220-78del	XP_024308066.1:n.1220-79_1220-78del
XM_024452299.1:c.1052-79_1052-78del	XP_024308067.1:n.1052-79_1052-78del
XM_024452300.1:c.1052-79_1052-78del	XP_024308068.1:n.1052-79_1052-78del
XR_001755361.2:n.2555-79_2555-78del
XR_001755364.1:n.2278-4642_2278-4641del
XR_001755366.2:n.3084-79_3084-78del
XR_002958721.1:n.2500-4642_2500-4641del
XR_937947.2:n.2633-79_2633-78del
NM_001349898.2:c.1847-79_1847-78del	NP_001336827.1:n.1847-79_1847-78del
NM_001349899.2:c.1847-79_1847-78del	NP_001336828.1:n.1847-79_1847-78del
NM_001349900.2:c.1901-79_1901-78del	NP_001336829.1:n.1901-79_1901-78del
NM_001349903.2:c.1714-4642_1714-4641del	NP_001336832.1:n.1714-4642_1714-4641del
NM_001349904.2:c.1847-79_1847-78del	NP_001336833.1:n.1847-79_1847-78del
NR_073136.2:n.2102-79_2102-78del
NR_146311.2:n.2544-79_2544-78del
NR_146313.2:n.2389-79_2389-78del
NR_146315.2:n.2460-79_2460-78del
NM_022081.6:c.1847-79_1847-78del MANE Select	NP_071364.4:n.1847-79_1847-78del
NR_146316.2:n.2435-79_2435-78del