Canonical Allele Identifier: CA2739270999
Gene: HPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98427242_98427245dup , CM000672.2:g.98427242_98427245dup GRCh38
NC_000010.10:g.100186999_100187002dup , CM000672.1:g.100186999_100187002dup GRCh37
NC_000010.9:g.100176989_100176992dup NCBI36
NG_009646.1:g.24705_24708dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699112.1:c.599_602dup ENSP00000514137.1:p.Thr202GlyfsTer?
ENST00000699113.1:c.*337_*340dup ENSP00000514138.1:n.*337_*340dup
ENST00000699114.1:n.846_849dup
ENST00000699115.1:c.860_863dup ENSP00000514139.1:p.Thr289GlyfsTer?
ENST00000699116.1:n.1689_1692dup
ENST00000699117.1:n.1611_1614dup
ENST00000699118.1:c.572_575dup ENSP00000514140.1:p.Thr193GlyfsTer?
ENST00000699119.1:c.*318_*321dup ENSP00000514141.1:n.*318_*321dup
ENST00000699120.1:c.*417_*420dup ENSP00000514142.1:n.*417_*420dup
ENST00000699121.1:c.*318_*321dup ENSP00000514143.1:n.*318_*321dup
ENST00000699122.1:c.386_389dup ENSP00000514144.1:p.Thr131GlyfsTer?
ENST00000699123.1:c.*727_*730dup ENSP00000514145.1:n.*727_*730dup
ENST00000699124.1:n.1049_1052dup
ENST00000699125.1:c.989_992dup ENSP00000514146.1:p.Thr332GlyfsTer?
ENST00000699126.1:n.1202_1205dup
ENST00000699127.1:n.1202_1205dup
ENST00000699128.1:c.*98_*101dup ENSP00000514147.1:n.*98_*101dup
ENST00000699129.1:c.*98_*101dup ENSP00000514148.1:n.*98_*101dup
ENST00000699130.1:n.1103_1106dup
ENST00000699131.1:c.959_962dup ENSP00000514149.1:p.Thr322GlyfsTer?
ENST00000699132.1:n.3254_3257dup
ENST00000699133.1:c.860_863dup ENSP00000514150.1:p.Thr289GlyfsTer?
ENST00000699134.1:c.1217_1220dup ENSP00000514151.1:p.Thr408GlyfsTer?
ENST00000699135.1:c.*337_*340dup ENSP00000514152.1:n.*337_*340dup
ENST00000699136.1:c.860_863dup ENSP00000514153.1:p.Thr289GlyfsTer?
ENST00000699137.1:c.572_575dup ENSP00000514154.1:p.Thr193GlyfsTer?
ENST00000699138.1:c.*417_*420dup ENSP00000514155.1:n.*417_*420dup
ENST00000699139.1:c.698_701dup ENSP00000514156.1:p.Thr235GlyfsTer?
ENST00000699140.1:c.860_863dup ENSP00000514157.1:p.Thr289GlyfsTer?
ENST00000699141.1:c.*417_*420dup ENSP00000514158.1:n.*417_*420dup
ENST00000699142.1:c.959_962dup ENSP00000514159.1:p.Thr322GlyfsTer?
ENST00000699143.1:c.*318_*321dup ENSP00000514160.1:n.*318_*321dup
ENST00000699144.1:c.*417_*420dup ENSP00000514161.1:n.*417_*420dup
ENST00000699145.1:c.959_962dup ENSP00000514162.1:p.Thr322GlyfsTer?
ENST00000699146.1:c.959_962dup ENSP00000514164.1:p.Thr322GlyfsTer?
ENST00000699147.1:c.*417_*420dup ENSP00000514165.1:n.*417_*420dup
ENST00000699149.1:n.1202_1205dup
ENST00000699159.1:c.*318_*321dup ENSP00000514167.1:n.*318_*321dup
ENST00000361490.9:c.959_962dup MANE Select ENSP00000355310.4:p.Thr322GlyfsTer?
ENST00000325103.10:c.959_962dup ENSP00000326649.6:p.Thr322GlyfsTer?
ENST00000359632.7:c.344_347dup ENSP00000352652.3:p.Thr117GlyfsTer?
ENST00000361490.8:c.959_962dup ENSP00000355310.4:p.Thr322GlyfsTer?
ENST00000467246.5:n.1098_1101dup
ENST00000470095.5:n.344_347dup
ENST00000478087.5:n.505_508dup
ENST00000498219.5:n.737_740dup
ENST00000613394.4:c.959_962dup ENSP00000477926.1:p.Thr322GlyfsTer?
NM_000195.3:c.959_962dup NP_000186.2:p.Thr322GlyfsTer?
NM_000195.4:c.959_962dup NP_000186.2:p.Thr322GlyfsTer?
NM_001311345.1:c.-14_-11dup NP_001298274.1:n.-14_-11dup
XM_005269755.2:c.959_962dup XP_005269812.1:p.Thr322GlyfsTer?
XM_005269756.2:c.959_962dup XP_005269813.1:p.Thr322GlyfsTer?
XM_005269757.3:c.959_962dup XP_005269814.1:p.Thr322GlyfsTer?
XM_005269758.1:c.860_863dup XP_005269815.1:p.Thr289GlyfsTer?
XM_005269759.1:c.590_593dup XP_005269816.1:p.Thr199GlyfsTer?
XM_005269760.3:c.-14_-11dup XP_005269817.1:n.-14_-11dup
XM_005269761.1:c.-14_-11dup XP_005269818.1:n.-14_-11dup
XM_006717818.1:c.698_701dup XP_006717881.1:p.Thr235GlyfsTer?
NM_001322476.1:c.959_962dup NP_001309405.1:p.Thr322GlyfsTer?
NM_001322477.1:c.959_962dup NP_001309406.1:p.Thr322GlyfsTer?
NM_001322478.1:c.860_863dup NP_001309407.1:p.Thr289GlyfsTer?
NM_001322479.1:c.860_863dup NP_001309408.1:p.Thr289GlyfsTer?
NM_001322480.1:c.698_701dup NP_001309409.1:p.Thr235GlyfsTer?
NM_001322481.1:c.698_701dup NP_001309410.1:p.Thr235GlyfsTer?
NM_001322482.1:c.599_602dup NP_001309411.1:p.Thr202GlyfsTer?
NM_001322483.1:c.590_593dup NP_001309412.1:p.Thr199GlyfsTer?
NM_001322484.1:c.590_593dup NP_001309413.1:p.Thr199GlyfsTer?
NM_001322485.1:c.491_494dup NP_001309414.1:p.Thr166GlyfsTer?
NM_001322487.1:c.-14_-11dup NP_001309416.1:n.-14_-11dup
NM_001322489.1:c.-14_-11dup NP_001309418.1:n.-14_-11dup
XM_005269757.4:c.959_962dup XP_005269814.1:p.Thr322GlyfsTer?
XM_017016170.1:c.599_602dup XP_016871659.1:p.Thr202GlyfsTer?
XM_017016171.2:c.491_494dup XP_016871660.1:p.Thr166GlyfsTer?
XM_017016172.2:c.-14_-11dup XP_016871661.1:n.-14_-11dup
XM_024447971.1:c.989_992dup XP_024303739.1:p.Thr332GlyfsTer?
XM_024447972.1:c.-14_-11dup XP_024303740.1:n.-14_-11dup
XR_001747098.1:n.1228_1231dup
XR_001747099.2:n.1228_1231dup
XR_001747100.2:n.1228_1231dup
XR_001747101.2:n.1129_1132dup
NM_000195.5:c.959_962dup MANE Select NP_000186.2:p.Thr322GlyfsTer?
NM_001311345.2:c.-14_-11dup NP_001298274.1:n.-14_-11dup
NM_001322476.2:c.959_962dup NP_001309405.1:p.Thr322GlyfsTer?
NM_001322477.2:c.959_962dup NP_001309406.1:p.Thr322GlyfsTer?
NM_001322478.2:c.860_863dup NP_001309407.1:p.Thr289GlyfsTer?
NM_001322479.2:c.860_863dup NP_001309408.1:p.Thr289GlyfsTer?
NM_001322480.2:c.698_701dup NP_001309409.1:p.Thr235GlyfsTer?
NM_001322481.2:c.698_701dup NP_001309410.1:p.Thr235GlyfsTer?
NM_001322482.2:c.599_602dup NP_001309411.1:p.Thr202GlyfsTer?
NM_001322483.2:c.590_593dup NP_001309412.1:p.Thr199GlyfsTer?
NM_001322484.2:c.590_593dup NP_001309413.1:p.Thr199GlyfsTer?
NM_001322485.2:c.491_494dup NP_001309414.1:p.Thr166GlyfsTer?
NM_001322487.2:c.-14_-11dup NP_001309416.1:n.-14_-11dup
NM_001322489.2:c.-14_-11dup NP_001309418.1:n.-14_-11dup