Canonical Allele Identifier: CA2188861764

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033094_77033096delinsCTG , CM000677.2:g.77033094_77033096delinsCTG	GRCh38
NC_000015.9:g.77325435_77325437delinsCTG , CM000677.1:g.77325435_77325437delinsCTG	GRCh37
NC_000015.8:g.75112490_75112492delinsCTG	NCBI36
NG_007526.1:g.42971_42973delinsCTG , LRG_172:g.42971_42973delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+142_2095+144delinsCTG
ENST00000697623.1:n.2348+142_2348+144delinsCTG
ENST00000558012.6:c.929+142_929+144delinsCTG MANE Select	ENSP00000452746.1:n.929+142_929+144delinsCTG
ENST00000379595.7:c.929+142_929+144delinsCTG	ENSP00000368914.3:n.929+142_929+144delinsCTG
ENST00000557995.1:n.593+142_593+144delinsCTG
ENST00000558012.5:c.929+142_929+144delinsCTG	ENSP00000452746.1:n.929+142_929+144delinsCTG
ENST00000558870.1:c.78+700_78+702delinsCTG
ENST00000559295.5:c.872+666_872+668delinsCTG	ENSP00000452743.1:n.872+666_872+668delinsCTG
ENST00000559785.5:c.1158+142_1158+144delinsCTG	ENSP00000452986.1:n.1158+142_1158+144delinsCTG
ENST00000560223.5:c.*1031+142_*1031+144delinsCTG	ENSP00000454118.1:n.*1031+142_*1031+144delinsCTG
NM_003978.3:c.929+142_929+144delinsCTG , LRG_172t1:c.929+142_929+144delinsCTG	NP_003969.2:n.929+142_929+144delinsCTG
XM_006720737.2:c.563+142_563+144delinsCTG	XP_006720800.1:n.563+142_563+144delinsCTG
XM_011522163.1:c.986+142_986+144delinsCTG	XP_011520465.1:n.986+142_986+144delinsCTG
XM_011522164.1:c.884+142_884+144delinsCTG	XP_011520466.1:n.884+142_884+144delinsCTG
XM_011522165.1:c.782+142_782+144delinsCTG	XP_011520467.1:n.782+142_782+144delinsCTG
XM_011522166.1:c.1020+142_1020+144delinsCTG	XP_011520468.1:n.1020+142_1020+144delinsCTG
XM_011522167.1:c.895+700_895+702delinsCTG	XP_011520469.1:n.895+700_895+702delinsCTG
XM_011522168.1:c.986+142_986+144delinsCTG	XP_011520470.1:n.986+142_986+144delinsCTG
XM_011522169.1:c.798+1816_798+1818delinsCTG	XP_011520471.1:n.798+1816_798+1818delinsCTG
XM_011522170.1:c.372-2414_372-2412delinsCTG	XP_011520472.1:n.372-2414_372-2412delinsCTG
XM_011522171.1:c.312-2414_312-2412delinsCTG	XP_011520473.1:n.312-2414_312-2412delinsCTG
XM_011522172.1:c.312-2414_312-2412delinsCTG	XP_011520474.1:n.312-2414_312-2412delinsCTG
XM_011522173.1:c.312-2414_312-2412delinsCTG	XP_011520475.1:n.312-2414_312-2412delinsCTG
XR_931936.1:n.1470+142_1470+144delinsCTG
XR_931937.1:n.1413+142_1413+144delinsCTG
XR_931938.1:n.1345+700_1345+702delinsCTG
XR_931939.1:n.1248+1816_1248+1818delinsCTG
XR_931940.1:n.1070-2414_1070-2412delinsCTG
NM_001321135.1:c.872+666_872+668delinsCTG	NP_001308064.1:n.872+666_872+668delinsCTG
NM_001321136.1:c.902+142_902+144delinsCTG	NP_001308065.1:n.902+142_902+144delinsCTG
NM_001321137.1:c.1124+142_1124+144delinsCTG	NP_001308066.1:n.1124+142_1124+144delinsCTG
NM_003978.4:c.929+142_929+144delinsCTG	NP_003969.2:n.929+142_929+144delinsCTG
NR_135552.1:n.1150+1816_1150+1818delinsCTG
XM_006720737.3:c.563+142_563+144delinsCTG	XP_006720800.1:n.563+142_563+144delinsCTG
XM_011522163.2:c.986+142_986+144delinsCTG	XP_011520465.1:n.986+142_986+144delinsCTG
XM_011522165.2:c.782+142_782+144delinsCTG	XP_011520467.1:n.782+142_782+144delinsCTG
XM_011522166.2:c.1020+142_1020+144delinsCTG	XP_011520468.1:n.1020+142_1020+144delinsCTG
XM_011522167.2:c.895+700_895+702delinsCTG	XP_011520469.1:n.895+700_895+702delinsCTG
XM_011522168.3:c.986+142_986+144delinsCTG	XP_011520470.1:n.986+142_986+144delinsCTG
XM_011522169.2:c.798+1816_798+1818delinsCTG	XP_011520471.1:n.798+1816_798+1818delinsCTG
XR_931936.2:n.1468+142_1468+144delinsCTG
XR_931937.2:n.1411+142_1411+144delinsCTG
XR_931938.2:n.1343+700_1343+702delinsCTG
XR_931939.2:n.1246+1816_1246+1818delinsCTG
NM_001321135.2:c.872+666_872+668delinsCTG	NP_001308064.1:n.872+666_872+668delinsCTG
NM_001321136.2:c.902+142_902+144delinsCTG	NP_001308065.1:n.902+142_902+144delinsCTG
NM_003978.5:c.929+142_929+144delinsCTG MANE Select	NP_003969.2:n.929+142_929+144delinsCTG
NR_135552.2:n.1109+1816_1109+1818delinsCTG