Canonical Allele Identifier: CA341642
Gene: HPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.98427227_98427228insG , CM000672.2:g.98427227_98427228insG GRCh38
NC_000010.10:g.100186984_100186985insG , CM000672.1:g.100186984_100186985insG GRCh37
NC_000010.9:g.100176974_100176975insG NCBI36
NG_009646.1:g.24720_24721insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000699112.1:c.614_615insC ENSP00000514137.1:p.Met205IlefsTer?
ENST00000699113.1:c.*352_*353insC ENSP00000514138.1:n.*352_*353insC
ENST00000699114.1:n.861_862insC
ENST00000699115.1:c.875_876insC ENSP00000514139.1:p.Met292IlefsTer?
ENST00000699116.1:n.1704_1705insC
ENST00000699117.1:n.1626_1627insC
ENST00000699118.1:c.587_588insC ENSP00000514140.1:p.Met196IlefsTer?
ENST00000699119.1:c.*333_*334insC ENSP00000514141.1:n.*333_*334insC
ENST00000699120.1:c.*432_*433insC ENSP00000514142.1:n.*432_*433insC
ENST00000699121.1:c.*333_*334insC ENSP00000514143.1:n.*333_*334insC
ENST00000699122.1:c.401_402insC ENSP00000514144.1:p.Met134IlefsTer?
ENST00000699123.1:c.*742_*743insC ENSP00000514145.1:n.*742_*743insC
ENST00000699124.1:n.1064_1065insC
ENST00000699125.1:c.1004_1005insC ENSP00000514146.1:p.Met335IlefsTer?
ENST00000699126.1:n.1217_1218insC
ENST00000699127.1:n.1217_1218insC
ENST00000699128.1:c.*113_*114insC ENSP00000514147.1:n.*113_*114insC
ENST00000699129.1:c.*113_*114insC ENSP00000514148.1:n.*113_*114insC
ENST00000699130.1:n.1118_1119insC
ENST00000699131.1:c.974_975insC ENSP00000514149.1:p.Met325IlefsTer?
ENST00000699132.1:n.3269_3270insC
ENST00000699133.1:c.875_876insC ENSP00000514150.1:p.Met292IlefsTer?
ENST00000699134.1:c.1232_1233insC ENSP00000514151.1:p.Met411IlefsTer?
ENST00000699135.1:c.*352_*353insC ENSP00000514152.1:n.*352_*353insC
ENST00000699136.1:c.875_876insC ENSP00000514153.1:p.Met292IlefsTer?
ENST00000699137.1:c.587_588insC ENSP00000514154.1:p.Met196IlefsTer?
ENST00000699138.1:c.*432_*433insC ENSP00000514155.1:n.*432_*433insC
ENST00000699139.1:c.713_714insC ENSP00000514156.1:p.Met238IlefsTer?
ENST00000699140.1:c.875_876insC ENSP00000514157.1:p.Met292IlefsTer?
ENST00000699141.1:c.*432_*433insC ENSP00000514158.1:n.*432_*433insC
ENST00000699142.1:c.974_975insC ENSP00000514159.1:p.Met325IlefsTer?
ENST00000699143.1:c.*333_*334insC ENSP00000514160.1:n.*333_*334insC
ENST00000699144.1:c.*432_*433insC ENSP00000514161.1:n.*432_*433insC
ENST00000699145.1:c.974_975insC ENSP00000514162.1:p.Met325IlefsTer?
ENST00000699146.1:c.974_975insC ENSP00000514164.1:p.Met325IlefsTer?
ENST00000699147.1:c.*432_*433insC ENSP00000514165.1:n.*432_*433insC
ENST00000699149.1:n.1217_1218insC
ENST00000699159.1:c.*333_*334insC ENSP00000514167.1:n.*333_*334insC
ENST00000361490.9:c.974_975insC MANE Select ENSP00000355310.4:p.Met325IlefsTer?
ENST00000325103.10:c.974_975insC ENSP00000326649.6:p.Met325IlefsTer?
ENST00000359632.7:c.359_360insC ENSP00000352652.3:p.Met120IlefsTer?
ENST00000361490.8:c.974_975insC ENSP00000355310.4:p.Met325IlefsTer?
ENST00000467246.5:n.1113_1114insC
ENST00000470095.5:n.359_360insC
ENST00000478087.5:n.520_521insC
ENST00000498219.5:n.752_753insC
ENST00000613394.4:c.974_975insC ENSP00000477926.1:p.Met325IlefsTer?
NM_000195.3:c.974_975insC NP_000186.2:p.Met325IlefsTer?
NM_000195.4:c.974_975insC NP_000186.2:p.Met325IlefsTer?
NM_001311345.1:c.2_3insC NP_001298274.1:p.Met1IlefsTer?
XM_005269755.2:c.974_975insC XP_005269812.1:p.Met325IlefsTer?
XM_005269756.2:c.974_975insC XP_005269813.1:p.Met325IlefsTer?
XM_005269757.3:c.974_975insC XP_005269814.1:p.Met325IlefsTer?
XM_005269758.1:c.875_876insC XP_005269815.1:p.Met292IlefsTer?
XM_005269759.1:c.605_606insC XP_005269816.1:p.Met202IlefsTer?
XM_005269760.3:c.2_3insC XP_005269817.1:p.Met1IlefsTer?
XM_005269761.1:c.2_3insC XP_005269818.1:p.Met1IlefsTer?
XM_006717818.1:c.713_714insC XP_006717881.1:p.Met238IlefsTer?
NM_001322476.1:c.974_975insC NP_001309405.1:p.Met325IlefsTer?
NM_001322477.1:c.974_975insC NP_001309406.1:p.Met325IlefsTer?
NM_001322478.1:c.875_876insC NP_001309407.1:p.Met292IlefsTer?
NM_001322479.1:c.875_876insC NP_001309408.1:p.Met292IlefsTer?
NM_001322480.1:c.713_714insC NP_001309409.1:p.Met238IlefsTer?
NM_001322481.1:c.713_714insC NP_001309410.1:p.Met238IlefsTer?
NM_001322482.1:c.614_615insC NP_001309411.1:p.Met205IlefsTer?
NM_001322483.1:c.605_606insC NP_001309412.1:p.Met202IlefsTer?
NM_001322484.1:c.605_606insC NP_001309413.1:p.Met202IlefsTer?
NM_001322485.1:c.506_507insC NP_001309414.1:p.Met169IlefsTer?
NM_001322487.1:c.2_3insC NP_001309416.1:p.Met1IlefsTer?
NM_001322489.1:c.2_3insC NP_001309418.1:p.Met1IlefsTer?
XM_005269757.4:c.974_975insC XP_005269814.1:p.Met325IlefsTer?
XM_017016170.1:c.614_615insC XP_016871659.1:p.Met205IlefsTer?
XM_017016171.2:c.506_507insC XP_016871660.1:p.Met169IlefsTer?
XM_017016172.2:c.2_3insC XP_016871661.1:p.Met1IlefsTer?
XM_024447971.1:c.1004_1005insC XP_024303739.1:p.Met335IlefsTer?
XM_024447972.1:c.2_3insC XP_024303740.1:p.Met1IlefsTer?
XR_001747098.1:n.1243_1244insC
XR_001747099.2:n.1243_1244insC
XR_001747100.2:n.1243_1244insC
XR_001747101.2:n.1144_1145insC
NM_000195.5:c.974_975insC MANE Select NP_000186.2:p.Met325IlefsTer?
NM_001311345.2:c.2_3insC NP_001298274.1:p.Met1IlefsTer?
NM_001322476.2:c.974_975insC NP_001309405.1:p.Met325IlefsTer?
NM_001322477.2:c.974_975insC NP_001309406.1:p.Met325IlefsTer?
NM_001322478.2:c.875_876insC NP_001309407.1:p.Met292IlefsTer?
NM_001322479.2:c.875_876insC NP_001309408.1:p.Met292IlefsTer?
NM_001322480.2:c.713_714insC NP_001309409.1:p.Met238IlefsTer?
NM_001322481.2:c.713_714insC NP_001309410.1:p.Met238IlefsTer?
NM_001322482.2:c.614_615insC NP_001309411.1:p.Met205IlefsTer?
NM_001322483.2:c.605_606insC NP_001309412.1:p.Met202IlefsTer?
NM_001322484.2:c.605_606insC NP_001309413.1:p.Met202IlefsTer?
NM_001322485.2:c.506_507insC NP_001309414.1:p.Met169IlefsTer?
NM_001322487.2:c.2_3insC NP_001309416.1:p.Met1IlefsTer?
NM_001322489.2:c.2_3insC NP_001309418.1:p.Met1IlefsTer?