Canonical Allele Identifier: CA340383
Gene: HPS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98423802_98423817dup , CM000672.2:g.98423802_98423817dup GRCh38
NC_000010.10:g.100183559_100183574dup , CM000672.1:g.100183559_100183574dup GRCh37
NC_000010.9:g.100173549_100173564dup NCBI36
NG_009646.1:g.28135_28150dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699112.1:c.1112_1127dup ENSP00000514137.1:p.His377GlnfsTer?
ENST00000699113.1:c.*828_*843dup ENSP00000514138.1:n.*828_*843dup
ENST00000699114.1:n.1359_1374dup
ENST00000699115.1:c.*49_*64dup ENSP00000514139.1:n.*49_*64dup
ENST00000699116.1:n.3856_3871dup
ENST00000699117.1:n.2124_2139dup
ENST00000699118.1:c.1085_1100dup ENSP00000514140.1:p.His368GlnfsTer?
ENST00000699119.1:c.*663_*678dup ENSP00000514141.1:n.*663_*678dup
ENST00000699120.1:c.*930_*945dup ENSP00000514142.1:n.*930_*945dup
ENST00000699121.1:c.*831_*846dup ENSP00000514143.1:n.*831_*846dup
ENST00000699122.1:c.899_914dup ENSP00000514144.1:p.His306GlnfsTer?
ENST00000699123.1:c.*1240_*1255dup ENSP00000514145.1:n.*1240_*1255dup
ENST00000699124.1:n.2791_2806dup
ENST00000699125.1:c.1502_1517dup ENSP00000514146.1:p.His507GlnfsTer?
ENST00000699126.1:n.3369_3384dup
ENST00000699127.1:n.1715_1730dup
ENST00000699128.1:c.*589_*604dup ENSP00000514147.1:n.*589_*604dup
ENST00000699129.1:c.*611_*626dup ENSP00000514148.1:n.*611_*626dup
ENST00000699130.1:n.2845_2860dup
ENST00000699131.1:c.1304_1319dup ENSP00000514149.1:p.His441GlnfsTer?
ENST00000699132.1:n.3767_3782dup
ENST00000699133.1:c.1205_1220dup ENSP00000514150.1:p.His408GlnfsTer?
ENST00000699134.1:c.1730_1745dup ENSP00000514151.1:p.His583GlnfsTer?
ENST00000699135.1:c.*682_*697dup ENSP00000514152.1:n.*682_*697dup
ENST00000699136.1:c.1373_1388dup ENSP00000514153.1:p.His464GlnfsTer?
ENST00000699137.1:c.1085_1100dup ENSP00000514154.1:p.His368GlnfsTer?
ENST00000699138.1:c.*930_*945dup ENSP00000514155.1:n.*930_*945dup
ENST00000699139.1:c.1211_1226dup ENSP00000514156.1:p.His410GlnfsTer?
ENST00000699140.1:c.1373_1388dup ENSP00000514157.1:p.His464GlnfsTer?
ENST00000699141.1:c.*908_*923dup ENSP00000514158.1:n.*908_*923dup
ENST00000699142.1:c.1472_1487dup ENSP00000514159.1:p.His497GlnfsTer?
ENST00000699143.1:c.*831_*846dup ENSP00000514160.1:n.*831_*846dup
ENST00000699144.1:c.*930_*945dup ENSP00000514161.1:n.*930_*945dup
ENST00000699145.1:c.1472_1487dup ENSP00000514162.1:p.His497GlnfsTer?
ENST00000699146.1:c.1472_1487dup ENSP00000514164.1:p.His497GlnfsTer?
ENST00000699147.1:c.*930_*945dup ENSP00000514165.1:n.*930_*945dup
ENST00000699148.1:n.678_693dup
ENST00000699159.1:c.*831_*846dup ENSP00000514167.1:n.*831_*846dup
ENST00000361490.9:c.1472_1487dup MANE Select ENSP00000355310.4:p.His497GlnfsTer?
ENST00000325103.10:c.1472_1487dup ENSP00000326649.6:p.His497GlnfsTer?
ENST00000359632.7:c.857_872dup ENSP00000352652.3:p.His292GlnfsTer?
ENST00000361490.8:c.1472_1487dup ENSP00000355310.4:p.His497GlnfsTer?
ENST00000467246.5:n.1611_1626dup
ENST00000470095.5:n.689_704dup
ENST00000478087.5:n.850_865dup
ENST00000613394.4:c.1472_1487dup ENSP00000477926.1:p.His497GlnfsTer?
NM_000195.3:c.1472_1487dup NP_000186.2:p.His497GlnfsTer?
NM_000195.4:c.1472_1487dup NP_000186.2:p.His497GlnfsTer?
NM_001311345.1:c.500_515dup NP_001298274.1:p.His173GlnfsTer?
XM_005269755.2:c.1472_1487dup XP_005269812.1:p.His497GlnfsTer?
XM_005269756.2:c.1472_1487dup XP_005269813.1:p.His497GlnfsTer?
XM_005269757.3:c.1472_1487dup XP_005269814.1:p.His497GlnfsTer?
XM_005269758.1:c.1373_1388dup XP_005269815.1:p.His464GlnfsTer?
XM_005269759.1:c.1103_1118dup XP_005269816.1:p.His374GlnfsTer?
XM_005269760.3:c.500_515dup XP_005269817.1:p.His173GlnfsTer?
XM_005269761.1:c.500_515dup XP_005269818.1:p.His173GlnfsTer?
XM_006717818.1:c.1211_1226dup XP_006717881.1:p.His410GlnfsTer?
NM_001322476.1:c.1472_1487dup NP_001309405.1:p.His497GlnfsTer?
NM_001322477.1:c.1472_1487dup NP_001309406.1:p.His497GlnfsTer?
NM_001322478.1:c.1373_1388dup NP_001309407.1:p.His464GlnfsTer?
NM_001322479.1:c.1373_1388dup NP_001309408.1:p.His464GlnfsTer?
NM_001322480.1:c.1211_1226dup NP_001309409.1:p.His410GlnfsTer?
NM_001322481.1:c.1211_1226dup NP_001309410.1:p.His410GlnfsTer?
NM_001322482.1:c.1112_1127dup NP_001309411.1:p.His377GlnfsTer?
NM_001322483.1:c.1103_1118dup NP_001309412.1:p.His374GlnfsTer?
NM_001322484.1:c.1103_1118dup NP_001309413.1:p.His374GlnfsTer?
NM_001322485.1:c.1004_1019dup NP_001309414.1:p.His341GlnfsTer?
NM_001322487.1:c.500_515dup NP_001309416.1:p.His173GlnfsTer?
NM_001322489.1:c.500_515dup NP_001309418.1:p.His173GlnfsTer?
XM_005269757.4:c.1472_1487dup XP_005269814.1:p.His497GlnfsTer?
XM_017016170.1:c.1112_1127dup XP_016871659.1:p.His377GlnfsTer?
XM_017016171.2:c.1004_1019dup XP_016871660.1:p.His341GlnfsTer?
XM_017016172.2:c.500_515dup XP_016871661.1:p.His173GlnfsTer?
XM_024447971.1:c.1502_1517dup XP_024303739.1:p.His507GlnfsTer?
XM_024447972.1:c.500_515dup XP_024303740.1:p.His173GlnfsTer?
XR_001747098.1:n.1741_1756dup
XR_001747099.2:n.1719_1734dup
XR_001747101.2:n.1620_1635dup
NM_000195.5:c.1472_1487dup MANE Select NP_000186.2:p.His497GlnfsTer?
NM_001311345.2:c.500_515dup NP_001298274.1:p.His173GlnfsTer?
NM_001322476.2:c.1472_1487dup NP_001309405.1:p.His497GlnfsTer?
NM_001322477.2:c.1472_1487dup NP_001309406.1:p.His497GlnfsTer?
NM_001322478.2:c.1373_1388dup NP_001309407.1:p.His464GlnfsTer?
NM_001322479.2:c.1373_1388dup NP_001309408.1:p.His464GlnfsTer?
NM_001322480.2:c.1211_1226dup NP_001309409.1:p.His410GlnfsTer?
NM_001322481.2:c.1211_1226dup NP_001309410.1:p.His410GlnfsTer?
NM_001322482.2:c.1112_1127dup NP_001309411.1:p.His377GlnfsTer?
NM_001322483.2:c.1103_1118dup NP_001309412.1:p.His374GlnfsTer?
NM_001322484.2:c.1103_1118dup NP_001309413.1:p.His374GlnfsTer?
NM_001322485.2:c.1004_1019dup NP_001309414.1:p.His341GlnfsTer?
NM_001322487.2:c.500_515dup NP_001309416.1:p.His173GlnfsTer?
NM_001322489.2:c.500_515dup NP_001309418.1:p.His173GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'