Canonical Allele Identifier: CA2188861744

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033056_77033060delinsGTGTC , CM000677.2:g.77033056_77033060delinsGTGTC	GRCh38
NC_000015.9:g.77325397_77325401delinsGTGTC , CM000677.1:g.77325397_77325401delinsGTGTC	GRCh37
NC_000015.8:g.75112452_75112456delinsGTGTC	NCBI36
NG_007526.1:g.42933_42937delinsGTGTC , LRG_172:g.42933_42937delinsGTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+104_2095+108delinsGTGTC
ENST00000697623.1:n.2348+104_2348+108delinsGTGTC
ENST00000558012.6:c.929+104_929+108delinsGTGTC MANE Select	ENSP00000452746.1:n.929+104_929+108delinsGTGTC
ENST00000379595.7:c.929+104_929+108delinsGTGTC	ENSP00000368914.3:n.929+104_929+108delinsGTGTC
ENST00000557995.1:n.593+104_593+108delinsGTGTC
ENST00000558012.5:c.929+104_929+108delinsGTGTC	ENSP00000452746.1:n.929+104_929+108delinsGTGTC
ENST00000558870.1:c.78+662_78+666delinsGTGTC
ENST00000559295.5:c.872+628_872+632delinsGTGTC	ENSP00000452743.1:n.872+628_872+632delinsGTGTC
ENST00000559785.5:c.1158+104_1158+108delinsGTGTC	ENSP00000452986.1:n.1158+104_1158+108delinsGTGTC
ENST00000560223.5:c.*1031+104_*1031+108delinsGTGTC	ENSP00000454118.1:n.*1031+104_*1031+108delinsGTGTC
NM_003978.3:c.929+104_929+108delinsGTGTC , LRG_172t1:c.929+104_929+108delinsGTGTC	NP_003969.2:n.929+104_929+108delinsGTGTC
XM_006720737.2:c.563+104_563+108delinsGTGTC	XP_006720800.1:n.563+104_563+108delinsGTGTC
XM_011522163.1:c.986+104_986+108delinsGTGTC	XP_011520465.1:n.986+104_986+108delinsGTGTC
XM_011522164.1:c.884+104_884+108delinsGTGTC	XP_011520466.1:n.884+104_884+108delinsGTGTC
XM_011522165.1:c.782+104_782+108delinsGTGTC	XP_011520467.1:n.782+104_782+108delinsGTGTC
XM_011522166.1:c.1020+104_1020+108delinsGTGTC	XP_011520468.1:n.1020+104_1020+108delinsGTGTC
XM_011522167.1:c.895+662_895+666delinsGTGTC	XP_011520469.1:n.895+662_895+666delinsGTGTC
XM_011522168.1:c.986+104_986+108delinsGTGTC	XP_011520470.1:n.986+104_986+108delinsGTGTC
XM_011522169.1:c.798+1778_798+1782delinsGTGTC	XP_011520471.1:n.798+1778_798+1782delinsGTGTC
XM_011522170.1:c.372-2452_372-2448delinsGTGTC	XP_011520472.1:n.372-2452_372-2448delinsGTGTC
XM_011522171.1:c.312-2452_312-2448delinsGTGTC	XP_011520473.1:n.312-2452_312-2448delinsGTGTC
XM_011522172.1:c.312-2452_312-2448delinsGTGTC	XP_011520474.1:n.312-2452_312-2448delinsGTGTC
XM_011522173.1:c.312-2452_312-2448delinsGTGTC	XP_011520475.1:n.312-2452_312-2448delinsGTGTC
XR_931936.1:n.1470+104_1470+108delinsGTGTC
XR_931937.1:n.1413+104_1413+108delinsGTGTC
XR_931938.1:n.1345+662_1345+666delinsGTGTC
XR_931939.1:n.1248+1778_1248+1782delinsGTGTC
XR_931940.1:n.1070-2452_1070-2448delinsGTGTC
NM_001321135.1:c.872+628_872+632delinsGTGTC	NP_001308064.1:n.872+628_872+632delinsGTGTC
NM_001321136.1:c.902+104_902+108delinsGTGTC	NP_001308065.1:n.902+104_902+108delinsGTGTC
NM_001321137.1:c.1124+104_1124+108delinsGTGTC	NP_001308066.1:n.1124+104_1124+108delinsGTGTC
NM_003978.4:c.929+104_929+108delinsGTGTC	NP_003969.2:n.929+104_929+108delinsGTGTC
NR_135552.1:n.1150+1778_1150+1782delinsGTGTC
XM_006720737.3:c.563+104_563+108delinsGTGTC	XP_006720800.1:n.563+104_563+108delinsGTGTC
XM_011522163.2:c.986+104_986+108delinsGTGTC	XP_011520465.1:n.986+104_986+108delinsGTGTC
XM_011522165.2:c.782+104_782+108delinsGTGTC	XP_011520467.1:n.782+104_782+108delinsGTGTC
XM_011522166.2:c.1020+104_1020+108delinsGTGTC	XP_011520468.1:n.1020+104_1020+108delinsGTGTC
XM_011522167.2:c.895+662_895+666delinsGTGTC	XP_011520469.1:n.895+662_895+666delinsGTGTC
XM_011522168.3:c.986+104_986+108delinsGTGTC	XP_011520470.1:n.986+104_986+108delinsGTGTC
XM_011522169.2:c.798+1778_798+1782delinsGTGTC	XP_011520471.1:n.798+1778_798+1782delinsGTGTC
XR_931936.2:n.1468+104_1468+108delinsGTGTC
XR_931937.2:n.1411+104_1411+108delinsGTGTC
XR_931938.2:n.1343+662_1343+666delinsGTGTC
XR_931939.2:n.1246+1778_1246+1782delinsGTGTC
NM_001321135.2:c.872+628_872+632delinsGTGTC	NP_001308064.1:n.872+628_872+632delinsGTGTC
NM_001321136.2:c.902+104_902+108delinsGTGTC	NP_001308065.1:n.902+104_902+108delinsGTGTC
NM_003978.5:c.929+104_929+108delinsGTGTC MANE Select	NP_003969.2:n.929+104_929+108delinsGTGTC
NR_135552.2:n.1109+1778_1109+1782delinsGTGTC