Canonical Allele Identifier: CA2655894780

Gene: HPS4

Linked Data

• gnomAD v4: 22-26458039-T-TACGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26458041_26458042insGGGGAC , CM000684.2:g.26458041_26458042insGGGGAC	GRCh38
NC_000022.10:g.26854007_26854008insGGGGAC , CM000684.1:g.26854007_26854008insGGGGAC	GRCh37
NC_000022.9:g.25184007_25184008insGGGGAC	NCBI36
NG_009763.2:g.30824_30825insCCCCGT , LRG_590:g.30824_30825insCCCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.1901-73_1901-72insCCCCGT	ENSP00000415081.3:n.1901-73_1901-72insCCCCGT
ENST00000473782.2:c.1847-73_1847-72insCCCCGT	ENSP00000514223.1:n.1847-73_1847-72insCCCCGT
ENST00000483631.2:c.1052-73_1052-72insCCCCGT	ENSP00000514228.1:n.1052-73_1052-72insCCCCGT
ENST00000491142.2:c.1847-73_1847-72insCCCCGT	ENSP00000514221.1:n.1847-73_1847-72insCCCCGT
ENST00000699226.1:n.4773-73_4773-72insCCCCGT
ENST00000699227.1:c.*1191-73_*1191-72insCCCCGT	ENSP00000514220.1:n.*1191-73_*1191-72insCCCCGT
ENST00000699228.1:n.2397-73_2397-72insCCCCGT
ENST00000699229.1:n.1264-73_1264-72insCCCCGT
ENST00000699230.1:n.2570-73_2570-72insCCCCGT
ENST00000699231.1:n.4859-73_4859-72insCCCCGT
ENST00000699232.1:n.3203-73_3203-72insCCCCGT
ENST00000699233.1:n.1718-73_1718-72insCCCCGT
ENST00000699234.1:c.*1191-73_*1191-72insCCCCGT	ENSP00000514222.1:n.*1191-73_*1191-72insCCCCGT
ENST00000699235.1:c.1052-73_1052-72insCCCCGT	ENSP00000514224.1:n.1052-73_1052-72insCCCCGT
ENST00000699236.1:c.*1036-73_*1036-72insCCCCGT	ENSP00000514225.1:n.*1036-73_*1036-72insCCCCGT
ENST00000699237.1:c.*1036-73_*1036-72insCCCCGT	ENSP00000514226.1:n.*1036-73_*1036-72insCCCCGT
ENST00000699238.1:c.*1390-73_*1390-72insCCCCGT	ENSP00000514227.1:n.*1390-73_*1390-72insCCCCGT
ENST00000699239.1:n.4601-73_4601-72insCCCCGT
ENST00000699240.1:c.*1504-73_*1504-72insCCCCGT	ENSP00000514229.1:n.*1504-73_*1504-72insCCCCGT
ENST00000699241.1:c.*2039-73_*2039-72insCCCCGT	ENSP00000514230.1:n.*2039-73_*2039-72insCCCCGT
ENST00000699242.1:c.1757-73_1757-72insCCCCGT	ENSP00000514231.1:n.1757-73_1757-72insCCCCGT
ENST00000699243.1:c.*1191-73_*1191-72insCCCCGT	ENSP00000514232.1:n.*1191-73_*1191-72insCCCCGT
ENST00000699244.1:c.1700-73_1700-72insCCCCGT	ENSP00000514233.1:n.1700-73_1700-72insCCCCGT
ENST00000699245.1:n.1066_1067insCCCCGT
ENST00000699246.1:c.*1218-73_*1218-72insCCCCGT	ENSP00000514234.1:n.*1218-73_*1218-72insCCCCGT
ENST00000699247.1:c.803-73_803-72insCCCCGT	ENSP00000514235.1:n.803-73_803-72insCCCCGT
ENST00000699248.1:n.3784-4636_3784-4635insCCCCGT
ENST00000699249.1:c.*1058-4636_*1058-4635insCCCCGT	ENSP00000514236.1:n.*1058-4636_*1058-4635insCCCCGT
ENST00000699250.1:c.1714-4636_1714-4635insCCCCGT	ENSP00000514237.1:n.1714-4636_1714-4635insCCCCGT
ENST00000699251.1:c.1847-73_1847-72insCCCCGT	ENSP00000514238.1:n.1847-73_1847-72insCCCCGT
ENST00000699252.1:n.2397-73_2397-72insCCCCGT
ENST00000398145.7:c.1847-73_1847-72insCCCCGT MANE Select	ENSP00000381213.2:n.1847-73_1847-72insCCCCGT
ENST00000336873.9:c.1847-73_1847-72insCCCCGT	ENSP00000338457.5:n.1847-73_1847-72insCCCCGT
ENST00000398145.6:c.1847-73_1847-72insCCCCGT	ENSP00000381213.2:n.1847-73_1847-72insCCCCGT
ENST00000402105.7:c.1832-73_1832-72insCCCCGT	ENSP00000384185.3:n.1832-73_1832-72insCCCCGT
ENST00000429411.5:c.*1419-73_*1419-72insCCCCGT	ENSP00000399705.1:n.*1419-73_*1419-72insCCCCGT
ENST00000439453.5:c.*1365-73_*1365-72insCCCCGT	ENSP00000406764.1:n.*1365-73_*1365-72insCCCCGT
ENST00000464362.5:c.*2178-73_*2178-72insCCCCGT	ENSP00000430291.1:n.*2178-73_*2178-72insCCCCGT
ENST00000466781.5:n.4706-73_4706-72insCCCCGT
ENST00000485842.5:n.538-73_538-72insCCCCGT
ENST00000493455.6:n.410-73_410-72insCCCCGT
ENST00000496385.5:n.2480-4636_2480-4635insCCCCGT
ENST00000519774.5:n.233-73_233-72insCCCCGT
NM_022081.5:c.1847-73_1847-72insCCCCGT , LRG_590t1:c.1847-73_1847-72insCCCCGT	NP_071364.4:n.1847-73_1847-72insCCCCGT
NM_152841.2:c.1832-73_1832-72insCCCCGT , LRG_590t2:c.1832-73_1832-72insCCCCGT	NP_690054.1:n.1832-73_1832-72insCCCCGT
NR_073135.1:n.2533-73_2533-72insCCCCGT
NR_073136.1:n.2295-73_2295-72insCCCCGT
XM_006724353.2:c.1901-73_1901-72insCCCCGT	XP_006724416.1:n.1901-73_1901-72insCCCCGT
XM_006724354.2:c.1901-73_1901-72insCCCCGT	XP_006724417.1:n.1901-73_1901-72insCCCCGT
XM_006724360.2:c.1334-73_1334-72insCCCCGT	XP_006724423.1:n.1334-73_1334-72insCCCCGT
XM_011530485.1:c.1979-73_1979-72insCCCCGT	XP_011528787.1:n.1979-73_1979-72insCCCCGT
XM_011530486.1:c.1979-73_1979-72insCCCCGT	XP_011528788.1:n.1979-73_1979-72insCCCCGT
XM_011530487.1:c.1979-73_1979-72insCCCCGT	XP_011528789.1:n.1979-73_1979-72insCCCCGT
XM_011530488.1:c.1979-73_1979-72insCCCCGT	XP_011528790.1:n.1979-73_1979-72insCCCCGT
XM_011530489.1:c.1979-73_1979-72insCCCCGT	XP_011528791.1:n.1979-73_1979-72insCCCCGT
XM_011530490.1:c.1925-73_1925-72insCCCCGT	XP_011528792.1:n.1925-73_1925-72insCCCCGT
XM_011530491.1:c.1979-73_1979-72insCCCCGT	XP_011528793.1:n.1979-73_1979-72insCCCCGT
XM_011530492.1:c.1979-73_1979-72insCCCCGT	XP_011528794.1:n.1979-73_1979-72insCCCCGT
XM_011530493.1:c.1846-4636_1846-4635insCCCCGT	XP_011528795.1:n.1846-4636_1846-4635insCCCCGT
XM_011530494.1:c.1187-73_1187-72insCCCCGT	XP_011528796.1:n.1187-73_1187-72insCCCCGT
XM_011530495.1:c.1334-73_1334-72insCCCCGT	XP_011528797.1:n.1334-73_1334-72insCCCCGT
XM_011530496.1:c.1187-73_1187-72insCCCCGT	XP_011528798.1:n.1187-73_1187-72insCCCCGT
XR_937947.1:n.2638-73_2638-72insCCCCGT
NM_001349896.1:c.1847-73_1847-72insCCCCGT	NP_001336825.1:n.1847-73_1847-72insCCCCGT
NM_001349898.1:c.1847-73_1847-72insCCCCGT	NP_001336827.1:n.1847-73_1847-72insCCCCGT
NM_001349899.1:c.1847-73_1847-72insCCCCGT	NP_001336828.1:n.1847-73_1847-72insCCCCGT
NM_001349900.1:c.1901-73_1901-72insCCCCGT	NP_001336829.1:n.1901-73_1901-72insCCCCGT
NM_001349901.1:c.1901-73_1901-72insCCCCGT	NP_001336830.1:n.1901-73_1901-72insCCCCGT
NM_001349902.1:c.1714-4636_1714-4635insCCCCGT	NP_001336831.1:n.1714-4636_1714-4635insCCCCGT
NM_001349903.1:c.1714-4636_1714-4635insCCCCGT	NP_001336832.1:n.1714-4636_1714-4635insCCCCGT
NM_001349904.1:c.1847-73_1847-72insCCCCGT	NP_001336833.1:n.1847-73_1847-72insCCCCGT
NM_001349905.1:c.1847-73_1847-72insCCCCGT	NP_001336834.1:n.1847-73_1847-72insCCCCGT
NR_146311.1:n.2624-73_2624-72insCCCCGT
NR_146312.1:n.2449-73_2449-72insCCCCGT
NR_146313.1:n.2469-73_2469-72insCCCCGT
NR_146314.1:n.2600-73_2600-72insCCCCGT
NR_146315.1:n.2540-73_2540-72insCCCCGT
NR_146316.1:n.2515-73_2515-72insCCCCGT
XM_006724360.3:c.1334-73_1334-72insCCCCGT	XP_006724423.1:n.1334-73_1334-72insCCCCGT
XM_011530485.2:c.1979-73_1979-72insCCCCGT	XP_011528787.1:n.1979-73_1979-72insCCCCGT
XM_011530486.2:c.1979-73_1979-72insCCCCGT	XP_011528788.1:n.1979-73_1979-72insCCCCGT
XM_011530487.2:c.1979-73_1979-72insCCCCGT	XP_011528789.1:n.1979-73_1979-72insCCCCGT
XM_011530488.2:c.1979-73_1979-72insCCCCGT	XP_011528790.1:n.1979-73_1979-72insCCCCGT
XM_011530489.2:c.1979-73_1979-72insCCCCGT	XP_011528791.1:n.1979-73_1979-72insCCCCGT
XM_011530490.3:c.1925-73_1925-72insCCCCGT	XP_011528792.1:n.1925-73_1925-72insCCCCGT
XM_011530491.3:c.1979-73_1979-72insCCCCGT	XP_011528793.1:n.1979-73_1979-72insCCCCGT
XM_011530492.2:c.1979-73_1979-72insCCCCGT	XP_011528794.1:n.1979-73_1979-72insCCCCGT
XM_011530493.3:c.1846-4636_1846-4635insCCCCGT	XP_011528795.1:n.1846-4636_1846-4635insCCCCGT
XM_011530494.2:c.1187-73_1187-72insCCCCGT	XP_011528796.1:n.1187-73_1187-72insCCCCGT
XM_011530495.2:c.1334-73_1334-72insCCCCGT	XP_011528797.1:n.1334-73_1334-72insCCCCGT
XM_011530496.2:c.1187-73_1187-72insCCCCGT	XP_011528798.1:n.1187-73_1187-72insCCCCGT
XM_017029045.2:c.1925-73_1925-72insCCCCGT	XP_016884534.1:n.1925-73_1925-72insCCCCGT
XM_017029046.2:c.1847-73_1847-72insCCCCGT	XP_016884535.1:n.1847-73_1847-72insCCCCGT
XM_017029047.2:c.1792-4636_1792-4635insCCCCGT	XP_016884536.1:n.1792-4636_1792-4635insCCCCGT
XM_017029052.2:c.1439-73_1439-72insCCCCGT	XP_016884541.1:n.1439-73_1439-72insCCCCGT
XM_017029053.1:c.1424-73_1424-72insCCCCGT	XP_016884542.1:n.1424-73_1424-72insCCCCGT
XM_017029056.2:c.1052-73_1052-72insCCCCGT	XP_016884545.1:n.1052-73_1052-72insCCCCGT
XM_017029061.2:c.1052-73_1052-72insCCCCGT	XP_016884550.1:n.1052-73_1052-72insCCCCGT
XM_017029062.2:c.1052-73_1052-72insCCCCGT	XP_016884551.1:n.1052-73_1052-72insCCCCGT
XM_017029063.2:c.1052-73_1052-72insCCCCGT	XP_016884552.1:n.1052-73_1052-72insCCCCGT
XM_017029064.2:c.1052-73_1052-72insCCCCGT	XP_016884553.1:n.1052-73_1052-72insCCCCGT
XM_024452298.1:c.1220-73_1220-72insCCCCGT	XP_024308066.1:n.1220-73_1220-72insCCCCGT
XM_024452299.1:c.1052-73_1052-72insCCCCGT	XP_024308067.1:n.1052-73_1052-72insCCCCGT
XM_024452300.1:c.1052-73_1052-72insCCCCGT	XP_024308068.1:n.1052-73_1052-72insCCCCGT
XR_001755361.2:n.2555-73_2555-72insCCCCGT
XR_001755364.1:n.2278-4636_2278-4635insCCCCGT
XR_001755366.2:n.3084-73_3084-72insCCCCGT
XR_002958721.1:n.2500-4636_2500-4635insCCCCGT
XR_937947.2:n.2633-73_2633-72insCCCCGT
NM_001349898.2:c.1847-73_1847-72insCCCCGT	NP_001336827.1:n.1847-73_1847-72insCCCCGT
NM_001349899.2:c.1847-73_1847-72insCCCCGT	NP_001336828.1:n.1847-73_1847-72insCCCCGT
NM_001349900.2:c.1901-73_1901-72insCCCCGT	NP_001336829.1:n.1901-73_1901-72insCCCCGT
NM_001349903.2:c.1714-4636_1714-4635insCCCCGT	NP_001336832.1:n.1714-4636_1714-4635insCCCCGT
NM_001349904.2:c.1847-73_1847-72insCCCCGT	NP_001336833.1:n.1847-73_1847-72insCCCCGT
NR_073136.2:n.2102-73_2102-72insCCCCGT
NR_146311.2:n.2544-73_2544-72insCCCCGT
NR_146313.2:n.2389-73_2389-72insCCCCGT
NR_146315.2:n.2460-73_2460-72insCCCCGT
NM_022081.6:c.1847-73_1847-72insCCCCGT MANE Select	NP_071364.4:n.1847-73_1847-72insCCCCGT
NR_146316.2:n.2435-73_2435-72insCCCCGT