Canonical Allele Identifier: CA2825001735

Gene: HPS1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98417664_98417666delinsGGG , CM000672.2:g.98417664_98417666delinsGGG	GRCh38
NC_000010.10:g.100177421_100177423delinsGGG , CM000672.1:g.100177421_100177423delinsGGG	GRCh37
NC_000010.9:g.100167411_100167413delinsGGG	NCBI36
NG_009646.1:g.34282_34284delinsCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699112.1:c.1641_1643delinsCCC	ENSP00000514137.1:p.Leu548Pro
ENST00000699113.1:c.*1357_*1359delinsCCC	ENSP00000514138.1:n.*1357_*1359delinsCCC
ENST00000699114.1:n.1888_1890delinsCCC
ENST00000699115.1:c.*578_*580delinsCCC	ENSP00000514139.1:n.*578_*580delinsCCC
ENST00000699116.1:n.4469_4471delinsCCC
ENST00000699117.1:n.2653_2655delinsCCC
ENST00000699118.1:c.1614_1616delinsCCC	ENSP00000514140.1:p.Leu539Pro
ENST00000699119.1:c.*1192_*1194delinsCCC	ENSP00000514141.1:n.*1192_*1194delinsCCC
ENST00000699120.1:c.*1459_*1461delinsCCC	ENSP00000514142.1:n.*1459_*1461delinsCCC
ENST00000699121.1:c.*1360_*1362delinsCCC	ENSP00000514143.1:n.*1360_*1362delinsCCC
ENST00000699122.1:c.1428_1430delinsCCC	ENSP00000514144.1:p.Leu477Pro
ENST00000699123.1:c.*1769_*1771delinsCCC	ENSP00000514145.1:n.*1769_*1771delinsCCC
ENST00000699124.1:n.3404_3406delinsCCC
ENST00000699125.1:c.2031_2033delinsCCC	ENSP00000514146.1:p.Leu678Pro
ENST00000699126.1:n.3982_3984delinsCCC
ENST00000699127.1:n.2328_2330delinsCCC
ENST00000699128.1:c.*1118_*1120delinsCCC	ENSP00000514147.1:n.*1118_*1120delinsCCC
ENST00000699129.1:c.*1224_*1226delinsCCC	ENSP00000514148.1:n.*1224_*1226delinsCCC
ENST00000699130.1:n.3374_3376delinsCCC
ENST00000699131.1:c.1833_1835delinsCCC	ENSP00000514149.1:p.Leu612Pro
ENST00000699132.1:n.4296_4298delinsCCC
ENST00000699133.1:c.1734_1736delinsCCC	ENSP00000514150.1:p.Leu579Pro
ENST00000699134.1:c.2259_2261delinsCCC	ENSP00000514151.1:p.Leu754Pro
ENST00000699135.1:c.*1211_*1213delinsCCC	ENSP00000514152.1:n.*1211_*1213delinsCCC
ENST00000699136.1:c.1902_1904delinsCCC	ENSP00000514153.1:p.Leu635Pro
ENST00000699137.1:c.1614_1616delinsCCC	ENSP00000514154.1:p.Leu539Pro
ENST00000699138.1:c.*1459_*1461delinsCCC	ENSP00000514155.1:n.*1459_*1461delinsCCC
ENST00000699139.1:c.1740_1742delinsCCC	ENSP00000514156.1:p.Leu581Pro
ENST00000699140.1:c.1902_1904delinsCCC	ENSP00000514157.1:p.Leu635Pro
ENST00000699141.1:c.*1437_*1439delinsCCC	ENSP00000514158.1:n.*1437_*1439delinsCCC
ENST00000699142.1:c.2001_2003delinsCCC	ENSP00000514159.1:p.Leu668Pro
ENST00000699143.1:c.*1360_*1362delinsCCC	ENSP00000514160.1:n.*1360_*1362delinsCCC
ENST00000699144.1:c.*1459_*1461delinsCCC	ENSP00000514161.1:n.*1459_*1461delinsCCC
ENST00000699145.1:c.2001_2003delinsCCC	ENSP00000514162.1:p.Leu668Pro
ENST00000699146.1:c.1988+13_1988+15delinsCCC	ENSP00000514164.1:n.1988+13_1988+15delinsCCC
ENST00000699147.1:c.*1376_*1378delinsCCC	ENSP00000514165.1:n.*1376_*1378delinsCCC
ENST00000699159.1:c.*1347+13_*1347+15delinsCCC	ENSP00000514167.1:n.*1347+13_*1347+15delinsCCC
ENST00000361490.9:c.2001_2003delinsCCC MANE Select	ENSP00000355310.4:p.Leu668Pro
ENST00000325103.10:c.2001_2003delinsCCC	ENSP00000326649.6:p.Leu668Pro
ENST00000361490.8:c.2001_2003delinsCCC	ENSP00000355310.4:p.Leu668Pro
ENST00000467246.5:n.2140_2142delinsCCC
ENST00000613394.4:c.2001_2003delinsCCC	ENSP00000477926.1:p.Leu668Pro
NM_000195.3:c.2001_2003delinsCCC	NP_000186.2:p.Leu668Pro
NM_000195.4:c.2001_2003delinsCCC	NP_000186.2:p.Leu668Pro
NM_001311345.1:c.1029_1031delinsCCC	NP_001298274.1:p.Leu344Pro
XM_005269755.2:c.2001_2003delinsCCC	XP_005269812.1:p.Leu668Pro
XM_005269756.2:c.2001_2003delinsCCC	XP_005269813.1:p.Leu668Pro
XM_005269757.3:c.2001_2003delinsCCC	XP_005269814.1:p.Leu668Pro
XM_005269758.1:c.1902_1904delinsCCC	XP_005269815.1:p.Leu635Pro
XM_005269759.1:c.1632_1634delinsCCC	XP_005269816.1:p.Leu545Pro
XM_005269760.3:c.1029_1031delinsCCC	XP_005269817.1:p.Leu344Pro
XM_005269761.1:c.1029_1031delinsCCC	XP_005269818.1:p.Leu344Pro
XM_006717818.1:c.1740_1742delinsCCC	XP_006717881.1:p.Leu581Pro
NM_001322476.1:c.2001_2003delinsCCC	NP_001309405.1:p.Leu668Pro
NM_001322477.1:c.2001_2003delinsCCC	NP_001309406.1:p.Leu668Pro
NM_001322478.1:c.1902_1904delinsCCC	NP_001309407.1:p.Leu635Pro
NM_001322479.1:c.1902_1904delinsCCC	NP_001309408.1:p.Leu635Pro
NM_001322480.1:c.1740_1742delinsCCC	NP_001309409.1:p.Leu581Pro
NM_001322481.1:c.1740_1742delinsCCC	NP_001309410.1:p.Leu581Pro
NM_001322482.1:c.1641_1643delinsCCC	NP_001309411.1:p.Leu548Pro
NM_001322483.1:c.1632_1634delinsCCC	NP_001309412.1:p.Leu545Pro
NM_001322484.1:c.1632_1634delinsCCC	NP_001309413.1:p.Leu545Pro
NM_001322485.1:c.1533_1535delinsCCC	NP_001309414.1:p.Leu512Pro
NM_001322487.1:c.1029_1031delinsCCC	NP_001309416.1:p.Leu344Pro
NM_001322489.1:c.1029_1031delinsCCC	NP_001309418.1:p.Leu344Pro
XM_005269757.4:c.2001_2003delinsCCC	XP_005269814.1:p.Leu668Pro
XM_017016170.1:c.1641_1643delinsCCC	XP_016871659.1:p.Leu548Pro
XM_017016171.2:c.1533_1535delinsCCC	XP_016871660.1:p.Leu512Pro
XM_017016172.2:c.1029_1031delinsCCC	XP_016871661.1:p.Leu344Pro
XM_024447971.1:c.2031_2033delinsCCC	XP_024303739.1:p.Leu678Pro
XM_024447972.1:c.1029_1031delinsCCC	XP_024303740.1:p.Leu344Pro
XR_001747098.1:n.2270_2272delinsCCC
XR_001747099.2:n.2248_2250delinsCCC
XR_001747101.2:n.2149_2151delinsCCC
NM_000195.5:c.2001_2003delinsCCC MANE Select	NP_000186.2:p.Leu668Pro
NM_001311345.2:c.1029_1031delinsCCC	NP_001298274.1:p.Leu344Pro
NM_001322476.2:c.2001_2003delinsCCC	NP_001309405.1:p.Leu668Pro
NM_001322477.2:c.2001_2003delinsCCC	NP_001309406.1:p.Leu668Pro
NM_001322478.2:c.1902_1904delinsCCC	NP_001309407.1:p.Leu635Pro
NM_001322479.2:c.1902_1904delinsCCC	NP_001309408.1:p.Leu635Pro
NM_001322480.2:c.1740_1742delinsCCC	NP_001309409.1:p.Leu581Pro
NM_001322481.2:c.1740_1742delinsCCC	NP_001309410.1:p.Leu581Pro
NM_001322482.2:c.1641_1643delinsCCC	NP_001309411.1:p.Leu548Pro
NM_001322483.2:c.1632_1634delinsCCC	NP_001309412.1:p.Leu545Pro
NM_001322484.2:c.1632_1634delinsCCC	NP_001309413.1:p.Leu545Pro
NM_001322485.2:c.1533_1535delinsCCC	NP_001309414.1:p.Leu512Pro
NM_001322487.2:c.1029_1031delinsCCC	NP_001309416.1:p.Leu344Pro
NM_001322489.2:c.1029_1031delinsCCC	NP_001309418.1:p.Leu344Pro