Canonical Allele Identifier: CA340387

Gene: HPS1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.98427237del , CM000672.2:g.98427237del	GRCh38
NC_000010.10:g.100186994del , CM000672.1:g.100186994del	GRCh37
NC_000010.9:g.100176984del	NCBI36
NG_009646.1:g.24718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699112.1:c.612del	ENSP00000514137.1:p.Met205TrpfsTer6
ENST00000699113.1:c.*350del	ENSP00000514138.1:n.*350del
ENST00000699114.1:n.859del
ENST00000699115.1:c.873del	ENSP00000514139.1:p.Met292TrpfsTer18
ENST00000699116.1:n.1702del
ENST00000699117.1:n.1624del
ENST00000699118.1:c.585del	ENSP00000514140.1:p.Met196TrpfsTer6
ENST00000699119.1:c.*331del	ENSP00000514141.1:n.*331del
ENST00000699120.1:c.*430del	ENSP00000514142.1:n.*430del
ENST00000699121.1:c.*331del	ENSP00000514143.1:n.*331del
ENST00000699122.1:c.399del	ENSP00000514144.1:p.Met134TrpfsTer6
ENST00000699123.1:c.*740del	ENSP00000514145.1:n.*740del
ENST00000699124.1:n.1062del
ENST00000699125.1:c.1002del	ENSP00000514146.1:p.Met335TrpfsTer6
ENST00000699126.1:n.1215del
ENST00000699127.1:n.1215del
ENST00000699128.1:c.*111del	ENSP00000514147.1:n.*111del
ENST00000699129.1:c.*111del	ENSP00000514148.1:n.*111del
ENST00000699130.1:n.1116del
ENST00000699131.1:c.972del	ENSP00000514149.1:p.Met325TrpfsTer18
ENST00000699132.1:n.3267del
ENST00000699133.1:c.873del	ENSP00000514150.1:p.Met292TrpfsTer18
ENST00000699134.1:c.1230del	ENSP00000514151.1:p.Met411TrpfsTer6
ENST00000699135.1:c.*350del	ENSP00000514152.1:n.*350del
ENST00000699136.1:c.873del	ENSP00000514153.1:p.Met292TrpfsTer6
ENST00000699137.1:c.585del	ENSP00000514154.1:p.Met196TrpfsTer6
ENST00000699138.1:c.*430del	ENSP00000514155.1:n.*430del
ENST00000699139.1:c.711del	ENSP00000514156.1:p.Met238TrpfsTer6
ENST00000699140.1:c.873del	ENSP00000514157.1:p.Met292TrpfsTer6
ENST00000699141.1:c.*430del	ENSP00000514158.1:n.*430del
ENST00000699142.1:c.972del	ENSP00000514159.1:p.Met325TrpfsTer6
ENST00000699143.1:c.*331del	ENSP00000514160.1:n.*331del
ENST00000699144.1:c.*430del	ENSP00000514161.1:n.*430del
ENST00000699145.1:c.972del	ENSP00000514162.1:p.Met325TrpfsTer6
ENST00000699146.1:c.972del	ENSP00000514164.1:p.Met325TrpfsTer6
ENST00000699147.1:c.*430del	ENSP00000514165.1:n.*430del
ENST00000699149.1:n.1215del
ENST00000699159.1:c.*331del	ENSP00000514167.1:n.*331del
ENST00000361490.9:c.972del MANE Select	ENSP00000355310.4:p.Met325TrpfsTer6
ENST00000325103.10:c.972del	ENSP00000326649.6:p.Met325TrpfsTer6
ENST00000359632.7:c.357del	ENSP00000352652.3:p.Met120TrpfsTer6
ENST00000361490.8:c.972del	ENSP00000355310.4:p.Met325TrpfsTer6
ENST00000467246.5:n.1111del
ENST00000470095.5:n.357del
ENST00000478087.5:n.518del
ENST00000498219.5:n.750del
ENST00000613394.4:c.972del	ENSP00000477926.1:p.Met325TrpfsTer6
NM_000195.3:c.972del	NP_000186.2:p.Met325TrpfsTer6
NM_000195.4:c.972del	NP_000186.2:p.Met325TrpfsTer6
NM_001311345.1:c.-1del	NP_001298274.1:n.-1del
XM_005269755.2:c.972del	XP_005269812.1:p.Met325TrpfsTer6
XM_005269756.2:c.972del	XP_005269813.1:p.Met325TrpfsTer6
XM_005269757.3:c.972del	XP_005269814.1:p.Met325TrpfsTer6
XM_005269758.1:c.873del	XP_005269815.1:p.Met292TrpfsTer6
XM_005269759.1:c.603del	XP_005269816.1:p.Met202TrpfsTer6
XM_005269760.3:c.-1del	XP_005269817.1:n.-1del
XM_005269761.1:c.-1del	XP_005269818.1:n.-1del
XM_006717818.1:c.711del	XP_006717881.1:p.Met238TrpfsTer6
NM_001322476.1:c.972del	NP_001309405.1:p.Met325TrpfsTer6
NM_001322477.1:c.972del	NP_001309406.1:p.Met325TrpfsTer6
NM_001322478.1:c.873del	NP_001309407.1:p.Met292TrpfsTer6
NM_001322479.1:c.873del	NP_001309408.1:p.Met292TrpfsTer6
NM_001322480.1:c.711del	NP_001309409.1:p.Met238TrpfsTer6
NM_001322481.1:c.711del	NP_001309410.1:p.Met238TrpfsTer6
NM_001322482.1:c.612del	NP_001309411.1:p.Met205TrpfsTer6
NM_001322483.1:c.603del	NP_001309412.1:p.Met202TrpfsTer6
NM_001322484.1:c.603del	NP_001309413.1:p.Met202TrpfsTer6
NM_001322485.1:c.504del	NP_001309414.1:p.Met169TrpfsTer6
NM_001322487.1:c.-1del	NP_001309416.1:n.-1del
NM_001322489.1:c.-1del	NP_001309418.1:n.-1del
XM_005269757.4:c.972del	XP_005269814.1:p.Met325TrpfsTer6
XM_017016170.1:c.612del	XP_016871659.1:p.Met205TrpfsTer6
XM_017016171.2:c.504del	XP_016871660.1:p.Met169TrpfsTer6
XM_017016172.2:c.-1del	XP_016871661.1:n.-1del
XM_024447971.1:c.1002del	XP_024303739.1:p.Met335TrpfsTer6
XM_024447972.1:c.-1del	XP_024303740.1:n.-1del
XR_001747098.1:n.1241del
XR_001747099.2:n.1241del
XR_001747100.2:n.1241del
XR_001747101.2:n.1142del
NM_000195.5:c.972del MANE Select	NP_000186.2:p.Met325TrpfsTer6
NM_001311345.2:c.-1del	NP_001298274.1:n.-1del
NM_001322476.2:c.972del	NP_001309405.1:p.Met325TrpfsTer6
NM_001322477.2:c.972del	NP_001309406.1:p.Met325TrpfsTer6
NM_001322478.2:c.873del	NP_001309407.1:p.Met292TrpfsTer6
NM_001322479.2:c.873del	NP_001309408.1:p.Met292TrpfsTer6
NM_001322480.2:c.711del	NP_001309409.1:p.Met238TrpfsTer6
NM_001322481.2:c.711del	NP_001309410.1:p.Met238TrpfsTer6
NM_001322482.2:c.612del	NP_001309411.1:p.Met205TrpfsTer6
NM_001322483.2:c.603del	NP_001309412.1:p.Met202TrpfsTer6
NM_001322484.2:c.603del	NP_001309413.1:p.Met202TrpfsTer6
NM_001322485.2:c.504del	NP_001309414.1:p.Met169TrpfsTer6
NM_001322487.2:c.-1del	NP_001309416.1:n.-1del
NM_001322489.2:c.-1del	NP_001309418.1:n.-1del