Canonical Allele Identifier: CA2188861750
Gene: PSTPIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77033065_77033084delinsTCTGGTGCCCAGTTTAGGTG , CM000677.2:g.77033065_77033084delinsTCTGGTGCCCAGTTTAGGTG GRCh38
NC_000015.9:g.77325406_77325425delinsTCTGGTGCCCAGTTTAGGTG , CM000677.1:g.77325406_77325425delinsTCTGGTGCCCAGTTTAGGTG GRCh37
NC_000015.8:g.75112461_75112480delinsTCTGGTGCCCAGTTTAGGTG NCBI36
NG_007526.1:g.42942_42961delinsTCTGGTGCCCAGTTTAGGTG , LRG_172:g.42942_42961delinsTCTGGTGCCCAGTTTAGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.2095+113_2095+132delinsTCTGGTGCCCAGTTTAGGTG
ENST00000697623.1:n.2348+113_2348+132delinsTCTGGTGCCCAGTTTAGGTG
ENST00000558012.6:c.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG MANE Select ENSP00000452746.1:n.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG...
ENST00000379595.7:c.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG ENSP00000368914.3:n.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG...
ENST00000557995.1:n.593+113_593+132delinsTCTGGTGCCCAGTTTAGGTG
ENST00000558012.5:c.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG ENSP00000452746.1:n.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG...
ENST00000558870.1:c.78+671_78+690delinsTCTGGTGCCCAGTTTAGGTG
ENST00000559295.5:c.872+637_872+656delinsTCTGGTGCCCAGTTTAGGTG ENSP00000452743.1:n.872+637_872+656delinsTCTGGTGCCCAGTTTAGGTG...
ENST00000559785.5:c.1158+113_1158+132delinsTCTGGTGCCCAGTTTAGGTG ENSP00000452986.1:n.1158+113_1158+132delinsTCTGGTGCCCAGTTTAGG...
ENST00000560223.5:c.*1031+113_*1031+132delinsTCTGGTGCCCAGTTTAGGTG ENSP00000454118.1:n.*1031+113_*1031+132delinsTCTGGTGCCCAGTTTA...
NM_003978.3:c.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG , LRG_172t1:c.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG NP_003969.2:n.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG
XM_006720737.2:c.563+113_563+132delinsTCTGGTGCCCAGTTTAGGTG XP_006720800.1:n.563+113_563+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522163.1:c.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520465.1:n.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522164.1:c.884+113_884+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520466.1:n.884+113_884+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522165.1:c.782+113_782+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520467.1:n.782+113_782+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522166.1:c.1020+113_1020+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520468.1:n.1020+113_1020+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522167.1:c.895+671_895+690delinsTCTGGTGCCCAGTTTAGGTG XP_011520469.1:n.895+671_895+690delinsTCTGGTGCCCAGTTTAGGTG
XM_011522168.1:c.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520470.1:n.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522169.1:c.798+1787_798+1806delinsTCTGGTGCCCAGTTTAGGTG XP_011520471.1:n.798+1787_798+1806delinsTCTGGTGCCCAGTTTAGGTG
XM_011522170.1:c.372-2443_372-2424delinsTCTGGTGCCCAGTTTAGGTG XP_011520472.1:n.372-2443_372-2424delinsTCTGGTGCCCAGTTTAGGTG
XM_011522171.1:c.312-2443_312-2424delinsTCTGGTGCCCAGTTTAGGTG XP_011520473.1:n.312-2443_312-2424delinsTCTGGTGCCCAGTTTAGGTG
XM_011522172.1:c.312-2443_312-2424delinsTCTGGTGCCCAGTTTAGGTG XP_011520474.1:n.312-2443_312-2424delinsTCTGGTGCCCAGTTTAGGTG
XM_011522173.1:c.312-2443_312-2424delinsTCTGGTGCCCAGTTTAGGTG XP_011520475.1:n.312-2443_312-2424delinsTCTGGTGCCCAGTTTAGGTG
XR_931936.1:n.1470+113_1470+132delinsTCTGGTGCCCAGTTTAGGTG
XR_931937.1:n.1413+113_1413+132delinsTCTGGTGCCCAGTTTAGGTG
XR_931938.1:n.1345+671_1345+690delinsTCTGGTGCCCAGTTTAGGTG
XR_931939.1:n.1248+1787_1248+1806delinsTCTGGTGCCCAGTTTAGGTG
XR_931940.1:n.1070-2443_1070-2424delinsTCTGGTGCCCAGTTTAGGTG
NM_001321135.1:c.872+637_872+656delinsTCTGGTGCCCAGTTTAGGTG NP_001308064.1:n.872+637_872+656delinsTCTGGTGCCCAGTTTAGGTG
NM_001321136.1:c.902+113_902+132delinsTCTGGTGCCCAGTTTAGGTG NP_001308065.1:n.902+113_902+132delinsTCTGGTGCCCAGTTTAGGTG
NM_001321137.1:c.1124+113_1124+132delinsTCTGGTGCCCAGTTTAGGTG NP_001308066.1:n.1124+113_1124+132delinsTCTGGTGCCCAGTTTAGGTG
NM_003978.4:c.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG NP_003969.2:n.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG
NR_135552.1:n.1150+1787_1150+1806delinsTCTGGTGCCCAGTTTAGGTG
XM_006720737.3:c.563+113_563+132delinsTCTGGTGCCCAGTTTAGGTG XP_006720800.1:n.563+113_563+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522163.2:c.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520465.1:n.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522165.2:c.782+113_782+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520467.1:n.782+113_782+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522166.2:c.1020+113_1020+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520468.1:n.1020+113_1020+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522167.2:c.895+671_895+690delinsTCTGGTGCCCAGTTTAGGTG XP_011520469.1:n.895+671_895+690delinsTCTGGTGCCCAGTTTAGGTG
XM_011522168.3:c.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG XP_011520470.1:n.986+113_986+132delinsTCTGGTGCCCAGTTTAGGTG
XM_011522169.2:c.798+1787_798+1806delinsTCTGGTGCCCAGTTTAGGTG XP_011520471.1:n.798+1787_798+1806delinsTCTGGTGCCCAGTTTAGGTG
XR_931936.2:n.1468+113_1468+132delinsTCTGGTGCCCAGTTTAGGTG
XR_931937.2:n.1411+113_1411+132delinsTCTGGTGCCCAGTTTAGGTG
XR_931938.2:n.1343+671_1343+690delinsTCTGGTGCCCAGTTTAGGTG
XR_931939.2:n.1246+1787_1246+1806delinsTCTGGTGCCCAGTTTAGGTG
NM_001321135.2:c.872+637_872+656delinsTCTGGTGCCCAGTTTAGGTG NP_001308064.1:n.872+637_872+656delinsTCTGGTGCCCAGTTTAGGTG
NM_001321136.2:c.902+113_902+132delinsTCTGGTGCCCAGTTTAGGTG NP_001308065.1:n.902+113_902+132delinsTCTGGTGCCCAGTTTAGGTG
NM_003978.5:c.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG MANE Select NP_003969.2:n.929+113_929+132delinsTCTGGTGCCCAGTTTAGGTG
NR_135552.2:n.1109+1787_1109+1806delinsTCTGGTGCCCAGTTTAGGTG