Canonical Allele Identifier: CA2399201667

Gene: HPS4

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.26457645_26457653delinsCGTCTAAAG , CM000684.2:g.26457645_26457653delinsCGTCTAAAG	GRCh38
NC_000022.10:g.26853611_26853619delinsCGTCTAAAG , CM000684.1:g.26853611_26853619delinsCGTCTAAAG	GRCh37
NC_000022.9:g.25183611_25183619delinsCGTCTAAAG	NCBI36
NG_009763.2:g.31211_31219delinsCTTTAGACG , LRG_590:g.31211_31219delinsCTTTAGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422379.3:c.2009+206_2009+214delinsCTTTAGACG	ENSP00000415081.3:n.2009+206_2009+214delinsCTTTAGACG
ENST00000473782.2:c.1955+206_1955+214delinsCTTTAGACG	ENSP00000514223.1:n.1955+206_1955+214delinsCTTTAGACG
ENST00000483631.2:c.1160+206_1160+214delinsCTTTAGACG	ENSP00000514228.1:n.1160+206_1160+214delinsCTTTAGACG
ENST00000491142.2:c.1955+206_1955+214delinsCTTTAGACG	ENSP00000514221.1:n.1955+206_1955+214delinsCTTTAGACG
ENST00000699226.1:n.4881+206_4881+214delinsCTTTAGACG
ENST00000699227.1:c.*1299+206_*1299+214delinsCTTTAGACG	ENSP00000514220.1:n.*1299+206_*1299+214delinsCTTTAGACG
ENST00000699228.1:n.2505+206_2505+214delinsCTTTAGACG
ENST00000699229.1:n.1372+206_1372+214delinsCTTTAGACG
ENST00000699230.1:n.2678+206_2678+214delinsCTTTAGACG
ENST00000699231.1:n.4967+206_4967+214delinsCTTTAGACG
ENST00000699232.1:n.3311+206_3311+214delinsCTTTAGACG
ENST00000699233.1:n.1826+206_1826+214delinsCTTTAGACG
ENST00000699234.1:c.*1299+206_*1299+214delinsCTTTAGACG	ENSP00000514222.1:n.*1299+206_*1299+214delinsCTTTAGACG
ENST00000699235.1:c.1160+206_1160+214delinsCTTTAGACG	ENSP00000514224.1:n.1160+206_1160+214delinsCTTTAGACG
ENST00000699236.1:c.*1144+206_*1144+214delinsCTTTAGACG	ENSP00000514225.1:n.*1144+206_*1144+214delinsCTTTAGACG
ENST00000699237.1:c.*1144+206_*1144+214delinsCTTTAGACG	ENSP00000514226.1:n.*1144+206_*1144+214delinsCTTTAGACG
ENST00000699238.1:c.*1498+206_*1498+214delinsCTTTAGACG	ENSP00000514227.1:n.*1498+206_*1498+214delinsCTTTAGACG
ENST00000699239.1:n.4709+206_4709+214delinsCTTTAGACG
ENST00000699240.1:c.*1612+206_*1612+214delinsCTTTAGACG	ENSP00000514229.1:n.*1612+206_*1612+214delinsCTTTAGACG
ENST00000699241.1:c.*2147+206_*2147+214delinsCTTTAGACG	ENSP00000514230.1:n.*2147+206_*2147+214delinsCTTTAGACG
ENST00000699242.1:c.1865+206_1865+214delinsCTTTAGACG	ENSP00000514231.1:n.1865+206_1865+214delinsCTTTAGACG
ENST00000699243.1:c.*1299+206_*1299+214delinsCTTTAGACG	ENSP00000514232.1:n.*1299+206_*1299+214delinsCTTTAGACG
ENST00000699244.1:c.1808+206_1808+214delinsCTTTAGACG	ENSP00000514233.1:n.1808+206_1808+214delinsCTTTAGACG
ENST00000699245.1:n.1247+206_1247+214delinsCTTTAGACG
ENST00000699246.1:c.*1326+206_*1326+214delinsCTTTAGACG	ENSP00000514234.1:n.*1326+206_*1326+214delinsCTTTAGACG
ENST00000699247.1:c.911+206_911+214delinsCTTTAGACG	ENSP00000514235.1:n.911+206_911+214delinsCTTTAGACG
ENST00000699248.1:n.3784-4249_3784-4241delinsCTTTAGACG
ENST00000699249.1:c.*1058-4249_*1058-4241delinsCTTTAGACG	ENSP00000514236.1:n.*1058-4249_*1058-4241delinsCTTTAGACG
ENST00000699250.1:c.1714-4249_1714-4241delinsCTTTAGACG	ENSP00000514237.1:n.1714-4249_1714-4241delinsCTTTAGACG
ENST00000699251.1:c.1955+206_1955+214delinsCTTTAGACG	ENSP00000514238.1:n.1955+206_1955+214delinsCTTTAGACG
ENST00000699252.1:n.2711_2719delinsCTTTAGACG
ENST00000398145.7:c.1955+206_1955+214delinsCTTTAGACG MANE Select	ENSP00000381213.2:n.1955+206_1955+214delinsCTTTAGACG
ENST00000336873.9:c.1955+206_1955+214delinsCTTTAGACG	ENSP00000338457.5:n.1955+206_1955+214delinsCTTTAGACG
ENST00000398145.6:c.1955+206_1955+214delinsCTTTAGACG	ENSP00000381213.2:n.1955+206_1955+214delinsCTTTAGACG
ENST00000402105.7:c.1940+206_1940+214delinsCTTTAGACG	ENSP00000384185.3:n.1940+206_1940+214delinsCTTTAGACG
ENST00000429411.5:c.*1527+206_*1527+214delinsCTTTAGACG	ENSP00000399705.1:n.*1527+206_*1527+214delinsCTTTAGACG
ENST00000439453.5:c.*1473+206_*1473+214delinsCTTTAGACG	ENSP00000406764.1:n.*1473+206_*1473+214delinsCTTTAGACG
ENST00000464362.5:c.*2286+206_*2286+214delinsCTTTAGACG	ENSP00000430291.1:n.*2286+206_*2286+214delinsCTTTAGACG
ENST00000466781.5:n.4814+206_4814+214delinsCTTTAGACG
ENST00000485842.5:n.646+206_646+214delinsCTTTAGACG
ENST00000493455.6:n.518+206_518+214delinsCTTTAGACG
ENST00000496385.5:n.2480-4249_2480-4241delinsCTTTAGACG
ENST00000519774.5:n.341+206_341+214delinsCTTTAGACG
NM_022081.5:c.1955+206_1955+214delinsCTTTAGACG , LRG_590t1:c.1955+206_1955+214delinsCTTTAGACG	NP_071364.4:n.1955+206_1955+214delinsCTTTAGACG
NM_152841.2:c.1940+206_1940+214delinsCTTTAGACG , LRG_590t2:c.1940+206_1940+214delinsCTTTAGACG	NP_690054.1:n.1940+206_1940+214delinsCTTTAGACG
NR_073135.1:n.2641+206_2641+214delinsCTTTAGACG
NR_073136.1:n.2403+206_2403+214delinsCTTTAGACG
XM_006724353.2:c.2009+206_2009+214delinsCTTTAGACG	XP_006724416.1:n.2009+206_2009+214delinsCTTTAGACG
XM_006724354.2:c.2009+206_2009+214delinsCTTTAGACG	XP_006724417.1:n.2009+206_2009+214delinsCTTTAGACG
XM_006724360.2:c.1442+206_1442+214delinsCTTTAGACG	XP_006724423.1:n.1442+206_1442+214delinsCTTTAGACG
XM_011530485.1:c.2087+206_2087+214delinsCTTTAGACG	XP_011528787.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530486.1:c.2087+206_2087+214delinsCTTTAGACG	XP_011528788.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530487.1:c.2087+206_2087+214delinsCTTTAGACG	XP_011528789.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530488.1:c.2087+206_2087+214delinsCTTTAGACG	XP_011528790.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530489.1:c.2087+206_2087+214delinsCTTTAGACG	XP_011528791.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530490.1:c.2033+206_2033+214delinsCTTTAGACG	XP_011528792.1:n.2033+206_2033+214delinsCTTTAGACG
XM_011530491.1:c.2087+206_2087+214delinsCTTTAGACG	XP_011528793.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530492.1:c.2087+206_2087+214delinsCTTTAGACG	XP_011528794.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530493.1:c.1846-4249_1846-4241delinsCTTTAGACG	XP_011528795.1:n.1846-4249_1846-4241delinsCTTTAGACG
XM_011530494.1:c.1295+206_1295+214delinsCTTTAGACG	XP_011528796.1:n.1295+206_1295+214delinsCTTTAGACG
XM_011530495.1:c.1442+206_1442+214delinsCTTTAGACG	XP_011528797.1:n.1442+206_1442+214delinsCTTTAGACG
XM_011530496.1:c.1295+206_1295+214delinsCTTTAGACG	XP_011528798.1:n.1295+206_1295+214delinsCTTTAGACG
XR_937947.1:n.2746+206_2746+214delinsCTTTAGACG
NM_001349896.1:c.1955+206_1955+214delinsCTTTAGACG	NP_001336825.1:n.1955+206_1955+214delinsCTTTAGACG
NM_001349898.1:c.1955+206_1955+214delinsCTTTAGACG	NP_001336827.1:n.1955+206_1955+214delinsCTTTAGACG
NM_001349899.1:c.1955+206_1955+214delinsCTTTAGACG	NP_001336828.1:n.1955+206_1955+214delinsCTTTAGACG
NM_001349900.1:c.2009+206_2009+214delinsCTTTAGACG	NP_001336829.1:n.2009+206_2009+214delinsCTTTAGACG
NM_001349901.1:c.2009+206_2009+214delinsCTTTAGACG	NP_001336830.1:n.2009+206_2009+214delinsCTTTAGACG
NM_001349902.1:c.1714-4249_1714-4241delinsCTTTAGACG	NP_001336831.1:n.1714-4249_1714-4241delinsCTTTAGACG
NM_001349903.1:c.1714-4249_1714-4241delinsCTTTAGACG	NP_001336832.1:n.1714-4249_1714-4241delinsCTTTAGACG
NM_001349904.1:c.1955+206_1955+214delinsCTTTAGACG	NP_001336833.1:n.1955+206_1955+214delinsCTTTAGACG
NM_001349905.1:c.1955+206_1955+214delinsCTTTAGACG	NP_001336834.1:n.1955+206_1955+214delinsCTTTAGACG
NR_146311.1:n.2732+206_2732+214delinsCTTTAGACG
NR_146312.1:n.2557+206_2557+214delinsCTTTAGACG
NR_146313.1:n.2577+206_2577+214delinsCTTTAGACG
NR_146314.1:n.2708+206_2708+214delinsCTTTAGACG
NR_146315.1:n.2648+206_2648+214delinsCTTTAGACG
NR_146316.1:n.2623+206_2623+214delinsCTTTAGACG
XM_006724360.3:c.1442+206_1442+214delinsCTTTAGACG	XP_006724423.1:n.1442+206_1442+214delinsCTTTAGACG
XM_011530485.2:c.2087+206_2087+214delinsCTTTAGACG	XP_011528787.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530486.2:c.2087+206_2087+214delinsCTTTAGACG	XP_011528788.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530487.2:c.2087+206_2087+214delinsCTTTAGACG	XP_011528789.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530488.2:c.2087+206_2087+214delinsCTTTAGACG	XP_011528790.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530489.2:c.2087+206_2087+214delinsCTTTAGACG	XP_011528791.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530490.3:c.2033+206_2033+214delinsCTTTAGACG	XP_011528792.1:n.2033+206_2033+214delinsCTTTAGACG
XM_011530491.3:c.2087+206_2087+214delinsCTTTAGACG	XP_011528793.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530492.2:c.2087+206_2087+214delinsCTTTAGACG	XP_011528794.1:n.2087+206_2087+214delinsCTTTAGACG
XM_011530493.3:c.1846-4249_1846-4241delinsCTTTAGACG	XP_011528795.1:n.1846-4249_1846-4241delinsCTTTAGACG
XM_011530494.2:c.1295+206_1295+214delinsCTTTAGACG	XP_011528796.1:n.1295+206_1295+214delinsCTTTAGACG
XM_011530495.2:c.1442+206_1442+214delinsCTTTAGACG	XP_011528797.1:n.1442+206_1442+214delinsCTTTAGACG
XM_011530496.2:c.1295+206_1295+214delinsCTTTAGACG	XP_011528798.1:n.1295+206_1295+214delinsCTTTAGACG
XM_017029045.2:c.2033+206_2033+214delinsCTTTAGACG	XP_016884534.1:n.2033+206_2033+214delinsCTTTAGACG
XM_017029046.2:c.1955+206_1955+214delinsCTTTAGACG	XP_016884535.1:n.1955+206_1955+214delinsCTTTAGACG
XM_017029047.2:c.1792-4249_1792-4241delinsCTTTAGACG	XP_016884536.1:n.1792-4249_1792-4241delinsCTTTAGACG
XM_017029052.2:c.1547+206_1547+214delinsCTTTAGACG	XP_016884541.1:n.1547+206_1547+214delinsCTTTAGACG
XM_017029053.1:c.1532+206_1532+214delinsCTTTAGACG	XP_016884542.1:n.1532+206_1532+214delinsCTTTAGACG
XM_017029056.2:c.1160+206_1160+214delinsCTTTAGACG	XP_016884545.1:n.1160+206_1160+214delinsCTTTAGACG
XM_017029061.2:c.1160+206_1160+214delinsCTTTAGACG	XP_016884550.1:n.1160+206_1160+214delinsCTTTAGACG
XM_017029062.2:c.1160+206_1160+214delinsCTTTAGACG	XP_016884551.1:n.1160+206_1160+214delinsCTTTAGACG
XM_017029063.2:c.1160+206_1160+214delinsCTTTAGACG	XP_016884552.1:n.1160+206_1160+214delinsCTTTAGACG
XM_017029064.2:c.1160+206_1160+214delinsCTTTAGACG	XP_016884553.1:n.1160+206_1160+214delinsCTTTAGACG
XM_024452298.1:c.1328+206_1328+214delinsCTTTAGACG	XP_024308066.1:n.1328+206_1328+214delinsCTTTAGACG
XM_024452299.1:c.1160+206_1160+214delinsCTTTAGACG	XP_024308067.1:n.1160+206_1160+214delinsCTTTAGACG
XM_024452300.1:c.1160+206_1160+214delinsCTTTAGACG	XP_024308068.1:n.1160+206_1160+214delinsCTTTAGACG
XR_001755361.2:n.2663+206_2663+214delinsCTTTAGACG
XR_001755364.1:n.2278-4249_2278-4241delinsCTTTAGACG
XR_001755366.2:n.3192+206_3192+214delinsCTTTAGACG
XR_002958721.1:n.2500-4249_2500-4241delinsCTTTAGACG
XR_937947.2:n.2741+206_2741+214delinsCTTTAGACG
NM_001349898.2:c.1955+206_1955+214delinsCTTTAGACG	NP_001336827.1:n.1955+206_1955+214delinsCTTTAGACG
NM_001349899.2:c.1955+206_1955+214delinsCTTTAGACG	NP_001336828.1:n.1955+206_1955+214delinsCTTTAGACG
NM_001349900.2:c.2009+206_2009+214delinsCTTTAGACG	NP_001336829.1:n.2009+206_2009+214delinsCTTTAGACG
NM_001349903.2:c.1714-4249_1714-4241delinsCTTTAGACG	NP_001336832.1:n.1714-4249_1714-4241delinsCTTTAGACG
NM_001349904.2:c.1955+206_1955+214delinsCTTTAGACG	NP_001336833.1:n.1955+206_1955+214delinsCTTTAGACG
NR_073136.2:n.2210+206_2210+214delinsCTTTAGACG
NR_146311.2:n.2652+206_2652+214delinsCTTTAGACG
NR_146313.2:n.2497+206_2497+214delinsCTTTAGACG
NR_146315.2:n.2568+206_2568+214delinsCTTTAGACG
NM_022081.6:c.1955+206_1955+214delinsCTTTAGACG MANE Select	NP_071364.4:n.1955+206_1955+214delinsCTTTAGACG
NR_146316.2:n.2543+206_2543+214delinsCTTTAGACG