Canonical Allele Identifier: CA2804830585

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032567_77032568del , CM000677.2:g.77032567_77032568del	GRCh38
NC_000015.9:g.77324908_77324909del , CM000677.1:g.77324908_77324909del	GRCh37
NC_000015.8:g.75111963_75111964del	NCBI36
NG_007526.1:g.42444_42445del , LRG_172:g.42444_42445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1710_1711del
ENST00000697623.1:n.2257+173_2257+174del
ENST00000558012.6:c.838+173_838+174del MANE Select	ENSP00000452746.1:n.838+173_838+174del
ENST00000379595.7:c.838+173_838+174del	ENSP00000368914.3:n.838+173_838+174del
ENST00000557995.1:n.502+173_502+174del
ENST00000558012.5:c.838+173_838+174del	ENSP00000452746.1:n.838+173_838+174del
ENST00000558870.1:c.78+173_78+174del
ENST00000559295.5:c.872+139_872+140del	ENSP00000452743.1:n.872+139_872+140del
ENST00000559785.5:c.1067+139_1067+140del	ENSP00000452986.1:n.1067+139_1067+140del
ENST00000560223.5:c.*940+173_*940+174del	ENSP00000454118.1:n.*940+173_*940+174del
ENST00000560377.5:n.1252_1253del
NM_003978.3:c.838+173_838+174del , LRG_172t1:c.838+173_838+174del	NP_003969.2:n.838+173_838+174del
XM_006720737.2:c.472+173_472+174del	XP_006720800.1:n.472+173_472+174del
XM_011522163.1:c.895+173_895+174del	XP_011520465.1:n.895+173_895+174del
XM_011522164.1:c.793+173_793+174del	XP_011520466.1:n.793+173_793+174del
XM_011522165.1:c.691+173_691+174del	XP_011520467.1:n.691+173_691+174del
XM_011522166.1:c.929+139_929+140del	XP_011520468.1:n.929+139_929+140del
XM_011522167.1:c.895+173_895+174del	XP_011520469.1:n.895+173_895+174del
XM_011522168.1:c.895+173_895+174del	XP_011520470.1:n.895+173_895+174del
XM_011522169.1:c.798+1289_798+1290del	XP_011520471.1:n.798+1289_798+1290del
XM_011522170.1:c.372-2941_372-2940del	XP_011520472.1:n.372-2941_372-2940del
XM_011522171.1:c.312-2941_312-2940del	XP_011520473.1:n.312-2941_312-2940del
XM_011522172.1:c.312-2941_312-2940del	XP_011520474.1:n.312-2941_312-2940del
XM_011522173.1:c.312-2941_312-2940del	XP_011520475.1:n.312-2941_312-2940del
XR_931936.1:n.1379+139_1379+140del
XR_931937.1:n.1322+139_1322+140del
XR_931938.1:n.1345+173_1345+174del
XR_931939.1:n.1248+1289_1248+1290del
XR_931940.1:n.1070-2941_1070-2940del
NM_001321135.1:c.872+139_872+140del	NP_001308064.1:n.872+139_872+140del
NM_001321136.1:c.811+173_811+174del	NP_001308065.1:n.811+173_811+174del
NM_001321137.1:c.1033+173_1033+174del	NP_001308066.1:n.1033+173_1033+174del
NM_003978.4:c.838+173_838+174del	NP_003969.2:n.838+173_838+174del
NR_135552.1:n.1150+1289_1150+1290del
XM_006720737.3:c.472+173_472+174del	XP_006720800.1:n.472+173_472+174del
XM_011522163.2:c.895+173_895+174del	XP_011520465.1:n.895+173_895+174del
XM_011522165.2:c.691+173_691+174del	XP_011520467.1:n.691+173_691+174del
XM_011522166.2:c.929+139_929+140del	XP_011520468.1:n.929+139_929+140del
XM_011522167.2:c.895+173_895+174del	XP_011520469.1:n.895+173_895+174del
XM_011522168.3:c.895+173_895+174del	XP_011520470.1:n.895+173_895+174del
XM_011522169.2:c.798+1289_798+1290del	XP_011520471.1:n.798+1289_798+1290del
XR_931936.2:n.1377+139_1377+140del
XR_931937.2:n.1320+139_1320+140del
XR_931938.2:n.1343+173_1343+174del
XR_931939.2:n.1246+1289_1246+1290del
NM_001321135.2:c.872+139_872+140del	NP_001308064.1:n.872+139_872+140del
NM_001321136.2:c.811+173_811+174del	NP_001308065.1:n.811+173_811+174del
NM_003978.5:c.838+173_838+174del MANE Select	NP_003969.2:n.838+173_838+174del
NR_135552.2:n.1109+1289_1109+1290del