Canonical Allele Identifier: CA2188861470

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032559_77032562delinsGCCT , CM000677.2:g.77032559_77032562delinsGCCT	GRCh38
NC_000015.9:g.77324900_77324903delinsGCCT , CM000677.1:g.77324900_77324903delinsGCCT	GRCh37
NC_000015.8:g.75111955_75111958delinsGCCT	NCBI36
NG_007526.1:g.42436_42439delinsGCCT , LRG_172:g.42436_42439delinsGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1702_1705delinsGCCT
ENST00000697623.1:n.2257+165_2257+168delinsGCCT
ENST00000558012.6:c.838+165_838+168delinsGCCT MANE Select	ENSP00000452746.1:n.838+165_838+168delinsGCCT
ENST00000379595.7:c.838+165_838+168delinsGCCT	ENSP00000368914.3:n.838+165_838+168delinsGCCT
ENST00000557995.1:n.502+165_502+168delinsGCCT
ENST00000558012.5:c.838+165_838+168delinsGCCT	ENSP00000452746.1:n.838+165_838+168delinsGCCT
ENST00000558870.1:c.78+165_78+168delinsGCCT
ENST00000559295.5:c.872+131_872+134delinsGCCT	ENSP00000452743.1:n.872+131_872+134delinsGCCT
ENST00000559785.5:c.1067+131_1067+134delinsGCCT	ENSP00000452986.1:n.1067+131_1067+134delinsGCCT
ENST00000560223.5:c.*940+165_*940+168delinsGCCT	ENSP00000454118.1:n.*940+165_*940+168delinsGCCT
ENST00000560377.5:n.1244_1247delinsGCCT
NM_003978.3:c.838+165_838+168delinsGCCT , LRG_172t1:c.838+165_838+168delinsGCCT	NP_003969.2:n.838+165_838+168delinsGCCT
XM_006720737.2:c.472+165_472+168delinsGCCT	XP_006720800.1:n.472+165_472+168delinsGCCT
XM_011522163.1:c.895+165_895+168delinsGCCT	XP_011520465.1:n.895+165_895+168delinsGCCT
XM_011522164.1:c.793+165_793+168delinsGCCT	XP_011520466.1:n.793+165_793+168delinsGCCT
XM_011522165.1:c.691+165_691+168delinsGCCT	XP_011520467.1:n.691+165_691+168delinsGCCT
XM_011522166.1:c.929+131_929+134delinsGCCT	XP_011520468.1:n.929+131_929+134delinsGCCT
XM_011522167.1:c.895+165_895+168delinsGCCT	XP_011520469.1:n.895+165_895+168delinsGCCT
XM_011522168.1:c.895+165_895+168delinsGCCT	XP_011520470.1:n.895+165_895+168delinsGCCT
XM_011522169.1:c.798+1281_798+1284delinsGCCT	XP_011520471.1:n.798+1281_798+1284delinsGCCT
XM_011522170.1:c.372-2949_372-2946delinsGCCT	XP_011520472.1:n.372-2949_372-2946delinsGCCT
XM_011522171.1:c.312-2949_312-2946delinsGCCT	XP_011520473.1:n.312-2949_312-2946delinsGCCT
XM_011522172.1:c.312-2949_312-2946delinsGCCT	XP_011520474.1:n.312-2949_312-2946delinsGCCT
XM_011522173.1:c.312-2949_312-2946delinsGCCT	XP_011520475.1:n.312-2949_312-2946delinsGCCT
XR_931936.1:n.1379+131_1379+134delinsGCCT
XR_931937.1:n.1322+131_1322+134delinsGCCT
XR_931938.1:n.1345+165_1345+168delinsGCCT
XR_931939.1:n.1248+1281_1248+1284delinsGCCT
XR_931940.1:n.1070-2949_1070-2946delinsGCCT
NM_001321135.1:c.872+131_872+134delinsGCCT	NP_001308064.1:n.872+131_872+134delinsGCCT
NM_001321136.1:c.811+165_811+168delinsGCCT	NP_001308065.1:n.811+165_811+168delinsGCCT
NM_001321137.1:c.1033+165_1033+168delinsGCCT	NP_001308066.1:n.1033+165_1033+168delinsGCCT
NM_003978.4:c.838+165_838+168delinsGCCT	NP_003969.2:n.838+165_838+168delinsGCCT
NR_135552.1:n.1150+1281_1150+1284delinsGCCT
XM_006720737.3:c.472+165_472+168delinsGCCT	XP_006720800.1:n.472+165_472+168delinsGCCT
XM_011522163.2:c.895+165_895+168delinsGCCT	XP_011520465.1:n.895+165_895+168delinsGCCT
XM_011522165.2:c.691+165_691+168delinsGCCT	XP_011520467.1:n.691+165_691+168delinsGCCT
XM_011522166.2:c.929+131_929+134delinsGCCT	XP_011520468.1:n.929+131_929+134delinsGCCT
XM_011522167.2:c.895+165_895+168delinsGCCT	XP_011520469.1:n.895+165_895+168delinsGCCT
XM_011522168.3:c.895+165_895+168delinsGCCT	XP_011520470.1:n.895+165_895+168delinsGCCT
XM_011522169.2:c.798+1281_798+1284delinsGCCT	XP_011520471.1:n.798+1281_798+1284delinsGCCT
XR_931936.2:n.1377+131_1377+134delinsGCCT
XR_931937.2:n.1320+131_1320+134delinsGCCT
XR_931938.2:n.1343+165_1343+168delinsGCCT
XR_931939.2:n.1246+1281_1246+1284delinsGCCT
NM_001321135.2:c.872+131_872+134delinsGCCT	NP_001308064.1:n.872+131_872+134delinsGCCT
NM_001321136.2:c.811+165_811+168delinsGCCT	NP_001308065.1:n.811+165_811+168delinsGCCT
NM_003978.5:c.838+165_838+168delinsGCCT MANE Select	NP_003969.2:n.838+165_838+168delinsGCCT
NR_135552.2:n.1109+1281_1109+1284delinsGCCT