Canonical Allele Identifier: CA715849058
Gene: PSTPIP1 HGNC NCBI

Linked Data

dbSNP Id: rs1481686428

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77033146_77033154del , CM000677.2:g.77033146_77033154del GRCh38
NC_000015.9:g.77325487_77325495del , CM000677.1:g.77325487_77325495del GRCh37
NC_000015.8:g.75112542_75112550del NCBI36
NG_007526.1:g.43023_43031del , LRG_172:g.43023_43031del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.2095+194_2095+202del
ENST00000697623.1:n.2348+194_2348+202del
ENST00000558012.6:c.929+194_929+202del MANE Select ENSP00000452746.1:n.929+194_929+202del
ENST00000379595.7:c.929+194_929+202del ENSP00000368914.3:n.929+194_929+202del
ENST00000557995.1:n.593+194_593+202del
ENST00000558012.5:c.929+194_929+202del ENSP00000452746.1:n.929+194_929+202del
ENST00000558870.1:c.78+752_78+760del
ENST00000559295.5:c.872+718_872+726del ENSP00000452743.1:n.872+718_872+726del
ENST00000559785.5:c.1158+194_1158+202del ENSP00000452986.1:n.1158+194_1158+202del
ENST00000560223.5:c.*1031+194_*1031+202del ENSP00000454118.1:n.*1031+194_*1031+202del
NM_003978.3:c.929+194_929+202del , LRG_172t1:c.929+194_929+202del NP_003969.2:n.929+194_929+202del
XM_006720737.2:c.563+194_563+202del XP_006720800.1:n.563+194_563+202del
XM_011522163.1:c.986+194_986+202del XP_011520465.1:n.986+194_986+202del
XM_011522164.1:c.884+194_884+202del XP_011520466.1:n.884+194_884+202del
XM_011522165.1:c.782+194_782+202del XP_011520467.1:n.782+194_782+202del
XM_011522166.1:c.1020+194_1020+202del XP_011520468.1:n.1020+194_1020+202del
XM_011522167.1:c.895+752_895+760del XP_011520469.1:n.895+752_895+760del
XM_011522168.1:c.986+194_986+202del XP_011520470.1:n.986+194_986+202del
XM_011522169.1:c.798+1868_798+1876del XP_011520471.1:n.798+1868_798+1876del
XM_011522170.1:c.372-2362_372-2354del XP_011520472.1:n.372-2362_372-2354del
XM_011522171.1:c.312-2362_312-2354del XP_011520473.1:n.312-2362_312-2354del
XM_011522172.1:c.312-2362_312-2354del XP_011520474.1:n.312-2362_312-2354del
XM_011522173.1:c.312-2362_312-2354del XP_011520475.1:n.312-2362_312-2354del
XR_931936.1:n.1470+194_1470+202del
XR_931937.1:n.1413+194_1413+202del
XR_931938.1:n.1345+752_1345+760del
XR_931939.1:n.1248+1868_1248+1876del
XR_931940.1:n.1070-2362_1070-2354del
NM_001321135.1:c.872+718_872+726del NP_001308064.1:n.872+718_872+726del
NM_001321136.1:c.902+194_902+202del NP_001308065.1:n.902+194_902+202del
NM_001321137.1:c.1124+194_1124+202del NP_001308066.1:n.1124+194_1124+202del
NM_003978.4:c.929+194_929+202del NP_003969.2:n.929+194_929+202del
NR_135552.1:n.1150+1868_1150+1876del
XM_006720737.3:c.563+194_563+202del XP_006720800.1:n.563+194_563+202del
XM_011522163.2:c.986+194_986+202del XP_011520465.1:n.986+194_986+202del
XM_011522165.2:c.782+194_782+202del XP_011520467.1:n.782+194_782+202del
XM_011522166.2:c.1020+194_1020+202del XP_011520468.1:n.1020+194_1020+202del
XM_011522167.2:c.895+752_895+760del XP_011520469.1:n.895+752_895+760del
XM_011522168.3:c.986+194_986+202del XP_011520470.1:n.986+194_986+202del
XM_011522169.2:c.798+1868_798+1876del XP_011520471.1:n.798+1868_798+1876del
XR_931936.2:n.1468+194_1468+202del
XR_931937.2:n.1411+194_1411+202del
XR_931938.2:n.1343+752_1343+760del
XR_931939.2:n.1246+1868_1246+1876del
NM_001321135.2:c.872+718_872+726del NP_001308064.1:n.872+718_872+726del
NM_001321136.2:c.902+194_902+202del NP_001308065.1:n.902+194_902+202del
NM_003978.5:c.929+194_929+202del MANE Select NP_003969.2:n.929+194_929+202del
NR_135552.2:n.1109+1868_1109+1876del