Canonical Allele Identifier: CA2188861715

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033002_77033005delinsGGTC , CM000677.2:g.77033002_77033005delinsGGTC	GRCh38
NC_000015.9:g.77325343_77325346delinsGGTC , CM000677.1:g.77325343_77325346delinsGGTC	GRCh37
NC_000015.8:g.75112398_75112401delinsGGTC	NCBI36
NG_007526.1:g.42879_42882delinsGGTC , LRG_172:g.42879_42882delinsGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+50_2095+53delinsGGTC
ENST00000697623.1:n.2348+50_2348+53delinsGGTC
ENST00000558012.6:c.929+50_929+53delinsGGTC MANE Select	ENSP00000452746.1:n.929+50_929+53delinsGGTC
ENST00000379595.7:c.929+50_929+53delinsGGTC	ENSP00000368914.3:n.929+50_929+53delinsGGTC
ENST00000557995.1:n.593+50_593+53delinsGGTC
ENST00000558012.5:c.929+50_929+53delinsGGTC	ENSP00000452746.1:n.929+50_929+53delinsGGTC
ENST00000558870.1:c.78+608_78+611delinsGGTC
ENST00000559295.5:c.872+574_872+577delinsGGTC	ENSP00000452743.1:n.872+574_872+577delinsGGTC
ENST00000559785.5:c.1158+50_1158+53delinsGGTC	ENSP00000452986.1:n.1158+50_1158+53delinsGGTC
ENST00000560223.5:c.*1031+50_*1031+53delinsGGTC	ENSP00000454118.1:n.*1031+50_*1031+53delinsGGTC
NM_003978.3:c.929+50_929+53delinsGGTC , LRG_172t1:c.929+50_929+53delinsGGTC	NP_003969.2:n.929+50_929+53delinsGGTC
XM_006720737.2:c.563+50_563+53delinsGGTC	XP_006720800.1:n.563+50_563+53delinsGGTC
XM_011522163.1:c.986+50_986+53delinsGGTC	XP_011520465.1:n.986+50_986+53delinsGGTC
XM_011522164.1:c.884+50_884+53delinsGGTC	XP_011520466.1:n.884+50_884+53delinsGGTC
XM_011522165.1:c.782+50_782+53delinsGGTC	XP_011520467.1:n.782+50_782+53delinsGGTC
XM_011522166.1:c.1020+50_1020+53delinsGGTC	XP_011520468.1:n.1020+50_1020+53delinsGGTC
XM_011522167.1:c.895+608_895+611delinsGGTC	XP_011520469.1:n.895+608_895+611delinsGGTC
XM_011522168.1:c.986+50_986+53delinsGGTC	XP_011520470.1:n.986+50_986+53delinsGGTC
XM_011522169.1:c.798+1724_798+1727delinsGGTC	XP_011520471.1:n.798+1724_798+1727delinsGGTC
XM_011522170.1:c.372-2506_372-2503delinsGGTC	XP_011520472.1:n.372-2506_372-2503delinsGGTC
XM_011522171.1:c.312-2506_312-2503delinsGGTC	XP_011520473.1:n.312-2506_312-2503delinsGGTC
XM_011522172.1:c.312-2506_312-2503delinsGGTC	XP_011520474.1:n.312-2506_312-2503delinsGGTC
XM_011522173.1:c.312-2506_312-2503delinsGGTC	XP_011520475.1:n.312-2506_312-2503delinsGGTC
XR_931936.1:n.1470+50_1470+53delinsGGTC
XR_931937.1:n.1413+50_1413+53delinsGGTC
XR_931938.1:n.1345+608_1345+611delinsGGTC
XR_931939.1:n.1248+1724_1248+1727delinsGGTC
XR_931940.1:n.1070-2506_1070-2503delinsGGTC
NM_001321135.1:c.872+574_872+577delinsGGTC	NP_001308064.1:n.872+574_872+577delinsGGTC
NM_001321136.1:c.902+50_902+53delinsGGTC	NP_001308065.1:n.902+50_902+53delinsGGTC
NM_001321137.1:c.1124+50_1124+53delinsGGTC	NP_001308066.1:n.1124+50_1124+53delinsGGTC
NM_003978.4:c.929+50_929+53delinsGGTC	NP_003969.2:n.929+50_929+53delinsGGTC
NR_135552.1:n.1150+1724_1150+1727delinsGGTC
XM_006720737.3:c.563+50_563+53delinsGGTC	XP_006720800.1:n.563+50_563+53delinsGGTC
XM_011522163.2:c.986+50_986+53delinsGGTC	XP_011520465.1:n.986+50_986+53delinsGGTC
XM_011522165.2:c.782+50_782+53delinsGGTC	XP_011520467.1:n.782+50_782+53delinsGGTC
XM_011522166.2:c.1020+50_1020+53delinsGGTC	XP_011520468.1:n.1020+50_1020+53delinsGGTC
XM_011522167.2:c.895+608_895+611delinsGGTC	XP_011520469.1:n.895+608_895+611delinsGGTC
XM_011522168.3:c.986+50_986+53delinsGGTC	XP_011520470.1:n.986+50_986+53delinsGGTC
XM_011522169.2:c.798+1724_798+1727delinsGGTC	XP_011520471.1:n.798+1724_798+1727delinsGGTC
XR_931936.2:n.1468+50_1468+53delinsGGTC
XR_931937.2:n.1411+50_1411+53delinsGGTC
XR_931938.2:n.1343+608_1343+611delinsGGTC
XR_931939.2:n.1246+1724_1246+1727delinsGGTC
NM_001321135.2:c.872+574_872+577delinsGGTC	NP_001308064.1:n.872+574_872+577delinsGGTC
NM_001321136.2:c.902+50_902+53delinsGGTC	NP_001308065.1:n.902+50_902+53delinsGGTC
NM_003978.5:c.929+50_929+53delinsGGTC MANE Select	NP_003969.2:n.929+50_929+53delinsGGTC
NR_135552.2:n.1109+1724_1109+1727delinsGGTC