Canonical Allele Identifier: CA2188861721
Gene: PSTPIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77033010_77033013delinsCCCT , CM000677.2:g.77033010_77033013delinsCCCT GRCh38
NC_000015.9:g.77325351_77325354delinsCCCT , CM000677.1:g.77325351_77325354delinsCCCT GRCh37
NC_000015.8:g.75112406_75112409delinsCCCT NCBI36
NG_007526.1:g.42887_42890delinsCCCT , LRG_172:g.42887_42890delinsCCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.2095+58_2095+61delinsCCCT
ENST00000697623.1:n.2348+58_2348+61delinsCCCT
ENST00000558012.6:c.929+58_929+61delinsCCCT MANE Select ENSP00000452746.1:n.929+58_929+61delinsCCCT
ENST00000379595.7:c.929+58_929+61delinsCCCT ENSP00000368914.3:n.929+58_929+61delinsCCCT
ENST00000557995.1:n.593+58_593+61delinsCCCT
ENST00000558012.5:c.929+58_929+61delinsCCCT ENSP00000452746.1:n.929+58_929+61delinsCCCT
ENST00000558870.1:c.78+616_78+619delinsCCCT
ENST00000559295.5:c.872+582_872+585delinsCCCT ENSP00000452743.1:n.872+582_872+585delinsCCCT
ENST00000559785.5:c.1158+58_1158+61delinsCCCT ENSP00000452986.1:n.1158+58_1158+61delinsCCCT
ENST00000560223.5:c.*1031+58_*1031+61delinsCCCT ENSP00000454118.1:n.*1031+58_*1031+61delinsCCCT
NM_003978.3:c.929+58_929+61delinsCCCT , LRG_172t1:c.929+58_929+61delinsCCCT NP_003969.2:n.929+58_929+61delinsCCCT
XM_006720737.2:c.563+58_563+61delinsCCCT XP_006720800.1:n.563+58_563+61delinsCCCT
XM_011522163.1:c.986+58_986+61delinsCCCT XP_011520465.1:n.986+58_986+61delinsCCCT
XM_011522164.1:c.884+58_884+61delinsCCCT XP_011520466.1:n.884+58_884+61delinsCCCT
XM_011522165.1:c.782+58_782+61delinsCCCT XP_011520467.1:n.782+58_782+61delinsCCCT
XM_011522166.1:c.1020+58_1020+61delinsCCCT XP_011520468.1:n.1020+58_1020+61delinsCCCT
XM_011522167.1:c.895+616_895+619delinsCCCT XP_011520469.1:n.895+616_895+619delinsCCCT
XM_011522168.1:c.986+58_986+61delinsCCCT XP_011520470.1:n.986+58_986+61delinsCCCT
XM_011522169.1:c.798+1732_798+1735delinsCCCT XP_011520471.1:n.798+1732_798+1735delinsCCCT
XM_011522170.1:c.372-2498_372-2495delinsCCCT XP_011520472.1:n.372-2498_372-2495delinsCCCT
XM_011522171.1:c.312-2498_312-2495delinsCCCT XP_011520473.1:n.312-2498_312-2495delinsCCCT
XM_011522172.1:c.312-2498_312-2495delinsCCCT XP_011520474.1:n.312-2498_312-2495delinsCCCT
XM_011522173.1:c.312-2498_312-2495delinsCCCT XP_011520475.1:n.312-2498_312-2495delinsCCCT
XR_931936.1:n.1470+58_1470+61delinsCCCT
XR_931937.1:n.1413+58_1413+61delinsCCCT
XR_931938.1:n.1345+616_1345+619delinsCCCT
XR_931939.1:n.1248+1732_1248+1735delinsCCCT
XR_931940.1:n.1070-2498_1070-2495delinsCCCT
NM_001321135.1:c.872+582_872+585delinsCCCT NP_001308064.1:n.872+582_872+585delinsCCCT
NM_001321136.1:c.902+58_902+61delinsCCCT NP_001308065.1:n.902+58_902+61delinsCCCT
NM_001321137.1:c.1124+58_1124+61delinsCCCT NP_001308066.1:n.1124+58_1124+61delinsCCCT
NM_003978.4:c.929+58_929+61delinsCCCT NP_003969.2:n.929+58_929+61delinsCCCT
NR_135552.1:n.1150+1732_1150+1735delinsCCCT
XM_006720737.3:c.563+58_563+61delinsCCCT XP_006720800.1:n.563+58_563+61delinsCCCT
XM_011522163.2:c.986+58_986+61delinsCCCT XP_011520465.1:n.986+58_986+61delinsCCCT
XM_011522165.2:c.782+58_782+61delinsCCCT XP_011520467.1:n.782+58_782+61delinsCCCT
XM_011522166.2:c.1020+58_1020+61delinsCCCT XP_011520468.1:n.1020+58_1020+61delinsCCCT
XM_011522167.2:c.895+616_895+619delinsCCCT XP_011520469.1:n.895+616_895+619delinsCCCT
XM_011522168.3:c.986+58_986+61delinsCCCT XP_011520470.1:n.986+58_986+61delinsCCCT
XM_011522169.2:c.798+1732_798+1735delinsCCCT XP_011520471.1:n.798+1732_798+1735delinsCCCT
XR_931936.2:n.1468+58_1468+61delinsCCCT
XR_931937.2:n.1411+58_1411+61delinsCCCT
XR_931938.2:n.1343+616_1343+619delinsCCCT
XR_931939.2:n.1246+1732_1246+1735delinsCCCT
NM_001321135.2:c.872+582_872+585delinsCCCT NP_001308064.1:n.872+582_872+585delinsCCCT
NM_001321136.2:c.902+58_902+61delinsCCCT NP_001308065.1:n.902+58_902+61delinsCCCT
NM_003978.5:c.929+58_929+61delinsCCCT MANE Select NP_003969.2:n.929+58_929+61delinsCCCT
NR_135552.2:n.1109+1732_1109+1735delinsCCCT