Canonical Allele Identifier: CA2697552595
Gene: HPS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2698863
ClinVar RCV Id: RCV003544350

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.26466245_26466246delinsAC , CM000684.2:g.26466245_26466246delinsAC GRCh38
NC_000022.10:g.26862211_26862212delinsAC , CM000684.1:g.26862211_26862212delinsAC GRCh37
NC_000022.9:g.25192211_25192212delinsAC NCBI36
NG_009763.2:g.22618_22619delinsGT , LRG_590:g.22618_22619delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000422379.3:c.686_687delinsGT ENSP00000415081.3:p.Glu229Gly
ENST00000473782.2:c.686_687delinsGT ENSP00000514223.1:p.Glu229Gly
ENST00000483631.2:c.-110_-109delinsGT ENSP00000514228.1:n.-110_-109delinsGT
ENST00000491142.2:c.686_687delinsGT ENSP00000514221.1:p.Glu229Gly
ENST00000699226.1:n.2938_2939delinsGT
ENST00000699227.1:c.*30_*31delinsGT ENSP00000514220.1:n.*30_*31delinsGT
ENST00000699228.1:n.1236_1237delinsGT
ENST00000699229.1:n.200_201delinsGT
ENST00000699230.1:n.735_736delinsGT
ENST00000699231.1:n.3024_3025delinsGT
ENST00000699232.1:n.740_741delinsGT
ENST00000699233.1:n.557_558delinsGT
ENST00000699234.1:c.*30_*31delinsGT ENSP00000514222.1:n.*30_*31delinsGT
ENST00000699235.1:c.-110_-109delinsGT ENSP00000514224.1:n.-110_-109delinsGT
ENST00000699236.1:c.686_687delinsGT ENSP00000514225.1:p.Glu229Gly
ENST00000699237.1:c.686_687delinsGT ENSP00000514226.1:p.Glu229Gly
ENST00000699238.1:c.*229_*230delinsGT ENSP00000514227.1:n.*229_*230delinsGT
ENST00000699239.1:n.3440_3441delinsGT
ENST00000699240.1:c.*343_*344delinsGT ENSP00000514229.1:n.*343_*344delinsGT
ENST00000699241.1:c.*204_*205delinsGT ENSP00000514230.1:n.*204_*205delinsGT
ENST00000699242.1:c.542_543delinsGT ENSP00000514231.1:p.Glu181Gly
ENST00000699243.1:c.*30_*31delinsGT ENSP00000514232.1:n.*30_*31delinsGT
ENST00000699244.1:c.686_687delinsGT ENSP00000514233.1:p.Glu229Gly
ENST00000699246.1:c.*204_*205delinsGT ENSP00000514234.1:n.*204_*205delinsGT
ENST00000699247.1:c.669+2305_669+2306delinsGT ENSP00000514235.1:n.669+2305_669+2306delinsGT
ENST00000699248.1:n.2756_2757delinsGT
ENST00000699249.1:c.*30_*31delinsGT ENSP00000514236.1:n.*30_*31delinsGT
ENST00000699250.1:c.686_687delinsGT ENSP00000514237.1:p.Glu229Gly
ENST00000699251.1:c.686_687delinsGT ENSP00000514238.1:p.Glu229Gly
ENST00000699252.1:n.1236_1237delinsGT
ENST00000398145.7:c.686_687delinsGT MANE Select ENSP00000381213.2:p.Glu229Gly
ENST00000336873.9:c.686_687delinsGT ENSP00000338457.5:p.Glu229Gly
ENST00000398145.6:c.686_687delinsGT ENSP00000381213.2:p.Glu229Gly
ENST00000402105.7:c.671_672delinsGT ENSP00000384185.3:p.Glu224Gly
ENST00000422379.2:c.686_687delinsGT ENSP00000415081.2:p.Glu229Gly
ENST00000429411.5:c.*204_*205delinsGT ENSP00000399705.1:n.*204_*205delinsGT
ENST00000439453.5:c.*204_*205delinsGT ENSP00000406764.1:n.*204_*205delinsGT
ENST00000459918.1:n.505_506delinsGT
ENST00000464362.5:c.*343_*344delinsGT ENSP00000430291.1:n.*343_*344delinsGT
ENST00000466781.5:n.3545_3546delinsGT
ENST00000485842.5:n.404+2305_404+2306delinsGT
ENST00000496385.5:n.778_779delinsGT
NM_022081.5:c.686_687delinsGT , LRG_590t1:c.686_687delinsGT NP_071364.4:p.Glu229Gly
NM_152841.2:c.671_672delinsGT , LRG_590t2:c.671_672delinsGT NP_690054.1:p.Glu224Gly
NR_073135.1:n.1372_1373delinsGT
NR_073136.1:n.1080_1081delinsGT
XM_006724353.2:c.686_687delinsGT XP_006724416.1:p.Glu229Gly
XM_006724354.2:c.686_687delinsGT XP_006724417.1:p.Glu229Gly
XM_006724360.2:c.-3_-2delinsGT XP_006724423.1:n.-3_-2delinsGT
XM_011530485.1:c.764_765delinsGT XP_011528787.1:p.Glu255Gly
XM_011530486.1:c.764_765delinsGT XP_011528788.1:p.Glu255Gly
XM_011530487.1:c.764_765delinsGT XP_011528789.1:p.Glu255Gly
XM_011530488.1:c.764_765delinsGT XP_011528790.1:p.Glu255Gly
XM_011530489.1:c.764_765delinsGT XP_011528791.1:p.Glu255Gly
XM_011530490.1:c.764_765delinsGT XP_011528792.1:p.Glu255Gly
XM_011530491.1:c.764_765delinsGT XP_011528793.1:p.Glu255Gly
XM_011530492.1:c.764_765delinsGT XP_011528794.1:p.Glu255Gly
XM_011530493.1:c.764_765delinsGT XP_011528795.1:p.Glu255Gly
XM_011530494.1:c.-29_-28delinsGT XP_011528796.1:n.-29_-28delinsGT
XM_011530495.1:c.-3_-2delinsGT XP_011528797.1:n.-3_-2delinsGT
XM_011530496.1:c.-29_-28delinsGT XP_011528798.1:n.-29_-28delinsGT
XR_937947.1:n.1423_1424delinsGT
NM_001349896.1:c.686_687delinsGT NP_001336825.1:p.Glu229Gly
NM_001349898.1:c.686_687delinsGT NP_001336827.1:p.Glu229Gly
NM_001349899.1:c.686_687delinsGT NP_001336828.1:p.Glu229Gly
NM_001349900.1:c.686_687delinsGT NP_001336829.1:p.Glu229Gly
NM_001349901.1:c.686_687delinsGT NP_001336830.1:p.Glu229Gly
NM_001349902.1:c.686_687delinsGT NP_001336831.1:p.Glu229Gly
NM_001349903.1:c.686_687delinsGT NP_001336832.1:p.Glu229Gly
NM_001349904.1:c.686_687delinsGT NP_001336833.1:p.Glu229Gly
NM_001349905.1:c.686_687delinsGT NP_001336834.1:p.Glu229Gly
NR_146311.1:n.1463_1464delinsGT
NR_146312.1:n.1288_1289delinsGT
NR_146313.1:n.1308_1309delinsGT
NR_146314.1:n.1439_1440delinsGT
NR_146315.1:n.1379_1380delinsGT
NR_146316.1:n.1354_1355delinsGT
XM_006724360.3:c.-3_-2delinsGT XP_006724423.1:n.-3_-2delinsGT
XM_011530485.2:c.764_765delinsGT XP_011528787.1:p.Glu255Gly
XM_011530486.2:c.764_765delinsGT XP_011528788.1:p.Glu255Gly
XM_011530487.2:c.764_765delinsGT XP_011528789.1:p.Glu255Gly
XM_011530488.2:c.764_765delinsGT XP_011528790.1:p.Glu255Gly
XM_011530489.2:c.764_765delinsGT XP_011528791.1:p.Glu255Gly
XM_011530490.3:c.764_765delinsGT XP_011528792.1:p.Glu255Gly
XM_011530491.3:c.764_765delinsGT XP_011528793.1:p.Glu255Gly
XM_011530492.2:c.764_765delinsGT XP_011528794.1:p.Glu255Gly
XM_011530493.3:c.764_765delinsGT XP_011528795.1:p.Glu255Gly
XM_011530494.2:c.-29_-28delinsGT XP_011528796.1:n.-29_-28delinsGT
XM_011530495.2:c.-3_-2delinsGT XP_011528797.1:n.-3_-2delinsGT
XM_011530496.2:c.-29_-28delinsGT XP_011528798.1:n.-29_-28delinsGT
XM_017029045.2:c.764_765delinsGT XP_016884534.1:p.Glu255Gly
XM_017029046.2:c.686_687delinsGT XP_016884535.1:p.Glu229Gly
XM_017029047.2:c.764_765delinsGT XP_016884536.1:p.Glu255Gly
XM_017029052.2:c.224_225delinsGT XP_016884541.1:p.Glu75Gly
XM_017029053.1:c.88_89delinsGT XP_016884542.1:p.Arg30Val
XM_017029056.2:c.-110_-109delinsGT XP_016884545.1:n.-110_-109delinsGT
XM_017029061.2:c.-110_-109delinsGT XP_016884550.1:n.-110_-109delinsGT
XM_017029062.2:c.-110_-109delinsGT XP_016884551.1:n.-110_-109delinsGT
XM_017029063.2:c.-110_-109delinsGT XP_016884552.1:n.-110_-109delinsGT
XM_017029064.2:c.-110_-109delinsGT XP_016884553.1:n.-110_-109delinsGT
XM_024452298.1:c.59_60delinsGT XP_024308066.1:p.Glu20Gly
XM_024452299.1:c.-784_-783delinsGT XP_024308067.1:n.-784_-783delinsGT
XM_024452300.1:c.-110_-109delinsGT XP_024308068.1:n.-110_-109delinsGT
XR_001755361.2:n.1340_1341delinsGT
XR_001755364.1:n.1250_1251delinsGT
XR_001755366.2:n.1249_1250delinsGT
XR_002958721.1:n.1418_1419delinsGT
XR_937947.2:n.1418_1419delinsGT
NM_001349898.2:c.686_687delinsGT NP_001336827.1:p.Glu229Gly
NM_001349899.2:c.686_687delinsGT NP_001336828.1:p.Glu229Gly
NM_001349900.2:c.686_687delinsGT NP_001336829.1:p.Glu229Gly
NM_001349903.2:c.686_687delinsGT NP_001336832.1:p.Glu229Gly
NM_001349904.2:c.686_687delinsGT NP_001336833.1:p.Glu229Gly
NR_073136.2:n.887_888delinsGT
NR_146311.2:n.1383_1384delinsGT
NR_146313.2:n.1228_1229delinsGT
NR_146315.2:n.1299_1300delinsGT
NM_022081.6:c.686_687delinsGT MANE Select NP_071364.4:p.Glu229Gly
NR_146316.2:n.1274_1275delinsGT