Canonical Allele Identifier: CA2188861806

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033158_77033179delinsGAATAATCACACCCCAATTATT , CM000677.2:g.77033158_77033179delinsGAATAATCACACCCCAATTATT	GRCh38
NC_000015.9:g.77325499_77325520delinsGAATAATCACACCCCAATTATT , CM000677.1:g.77325499_77325520delinsGAATAATCACACCCCAATTATT	GRCh37
NC_000015.8:g.75112554_75112575delinsGAATAATCACACCCCAATTATT	NCBI36
NG_007526.1:g.43035_43056delinsGAATAATCACACCCCAATTATT , LRG_172:g.43035_43056delinsGAATAATCACACCCCAATTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+206_2095+227delinsGAATAATCACACCCCAATTATT
ENST00000697623.1:n.2348+206_2348+227delinsGAATAATCACACCCCAATTATT
ENST00000558012.6:c.929+206_929+227delinsGAATAATCACACCCCAATTATT MANE Select	ENSP00000452746.1:n.929+206_929+227delinsGAATAATCACACCCCAATTA...
ENST00000379595.7:c.929+206_929+227delinsGAATAATCACACCCCAATTATT	ENSP00000368914.3:n.929+206_929+227delinsGAATAATCACACCCCAATTA...
ENST00000557995.1:n.593+206_593+227delinsGAATAATCACACCCCAATTATT
ENST00000558012.5:c.929+206_929+227delinsGAATAATCACACCCCAATTATT	ENSP00000452746.1:n.929+206_929+227delinsGAATAATCACACCCCAATTA...
ENST00000558870.1:c.78+764_78+785delinsGAATAATCACACCCCAATTATT
ENST00000559295.5:c.872+730_872+751delinsGAATAATCACACCCCAATTATT	ENSP00000452743.1:n.872+730_872+751delinsGAATAATCACACCCCAATTA...
ENST00000559785.5:c.1158+206_1158+227delinsGAATAATCACACCCCAATTATT	ENSP00000452986.1:n.1158+206_1158+227delinsGAATAATCACACCCCAAT...
ENST00000560223.5:c.*1031+206_*1031+227delinsGAATAATCACACCCCAATTATT	ENSP00000454118.1:n.*1031+206_*1031+227delinsGAATAATCACACCCCA...
NM_003978.3:c.929+206_929+227delinsGAATAATCACACCCCAATTATT , LRG_172t1:c.929+206_929+227delinsGAATAATCACACCCCAATTATT	NP_003969.2:n.929+206_929+227delinsGAATAATCACACCCCAATTATT
XM_006720737.2:c.563+206_563+227delinsGAATAATCACACCCCAATTATT	XP_006720800.1:n.563+206_563+227delinsGAATAATCACACCCCAATTATT
XM_011522163.1:c.986+206_986+227delinsGAATAATCACACCCCAATTATT	XP_011520465.1:n.986+206_986+227delinsGAATAATCACACCCCAATTATT
XM_011522164.1:c.884+206_884+227delinsGAATAATCACACCCCAATTATT	XP_011520466.1:n.884+206_884+227delinsGAATAATCACACCCCAATTATT
XM_011522165.1:c.782+206_782+227delinsGAATAATCACACCCCAATTATT	XP_011520467.1:n.782+206_782+227delinsGAATAATCACACCCCAATTATT
XM_011522166.1:c.1020+206_1020+227delinsGAATAATCACACCCCAATTATT	XP_011520468.1:n.1020+206_1020+227delinsGAATAATCACACCCCAATTAT...
XM_011522167.1:c.895+764_895+785delinsGAATAATCACACCCCAATTATT	XP_011520469.1:n.895+764_895+785delinsGAATAATCACACCCCAATTATT
XM_011522168.1:c.986+206_986+227delinsGAATAATCACACCCCAATTATT	XP_011520470.1:n.986+206_986+227delinsGAATAATCACACCCCAATTATT
XM_011522169.1:c.798+1880_798+1901delinsGAATAATCACACCCCAATTATT	XP_011520471.1:n.798+1880_798+1901delinsGAATAATCACACCCCAATTAT...
XM_011522170.1:c.372-2350_372-2329delinsGAATAATCACACCCCAATTATT	XP_011520472.1:n.372-2350_372-2329delinsGAATAATCACACCCCAATTAT...
XM_011522171.1:c.312-2350_312-2329delinsGAATAATCACACCCCAATTATT	XP_011520473.1:n.312-2350_312-2329delinsGAATAATCACACCCCAATTAT...
XM_011522172.1:c.312-2350_312-2329delinsGAATAATCACACCCCAATTATT	XP_011520474.1:n.312-2350_312-2329delinsGAATAATCACACCCCAATTAT...
XM_011522173.1:c.312-2350_312-2329delinsGAATAATCACACCCCAATTATT	XP_011520475.1:n.312-2350_312-2329delinsGAATAATCACACCCCAATTAT...
XR_931936.1:n.1470+206_1470+227delinsGAATAATCACACCCCAATTATT
XR_931937.1:n.1413+206_1413+227delinsGAATAATCACACCCCAATTATT
XR_931938.1:n.1345+764_1345+785delinsGAATAATCACACCCCAATTATT
XR_931939.1:n.1248+1880_1248+1901delinsGAATAATCACACCCCAATTATT
XR_931940.1:n.1070-2350_1070-2329delinsGAATAATCACACCCCAATTATT
NM_001321135.1:c.872+730_872+751delinsGAATAATCACACCCCAATTATT	NP_001308064.1:n.872+730_872+751delinsGAATAATCACACCCCAATTATT
NM_001321136.1:c.902+206_902+227delinsGAATAATCACACCCCAATTATT	NP_001308065.1:n.902+206_902+227delinsGAATAATCACACCCCAATTATT
NM_001321137.1:c.1124+206_1124+227delinsGAATAATCACACCCCAATTATT	NP_001308066.1:n.1124+206_1124+227delinsGAATAATCACACCCCAATTAT...
NM_003978.4:c.929+206_929+227delinsGAATAATCACACCCCAATTATT	NP_003969.2:n.929+206_929+227delinsGAATAATCACACCCCAATTATT
NR_135552.1:n.1150+1880_1150+1901delinsGAATAATCACACCCCAATTATT
XM_006720737.3:c.563+206_563+227delinsGAATAATCACACCCCAATTATT	XP_006720800.1:n.563+206_563+227delinsGAATAATCACACCCCAATTATT
XM_011522163.2:c.986+206_986+227delinsGAATAATCACACCCCAATTATT	XP_011520465.1:n.986+206_986+227delinsGAATAATCACACCCCAATTATT
XM_011522165.2:c.782+206_782+227delinsGAATAATCACACCCCAATTATT	XP_011520467.1:n.782+206_782+227delinsGAATAATCACACCCCAATTATT
XM_011522166.2:c.1020+206_1020+227delinsGAATAATCACACCCCAATTATT	XP_011520468.1:n.1020+206_1020+227delinsGAATAATCACACCCCAATTAT...
XM_011522167.2:c.895+764_895+785delinsGAATAATCACACCCCAATTATT	XP_011520469.1:n.895+764_895+785delinsGAATAATCACACCCCAATTATT
XM_011522168.3:c.986+206_986+227delinsGAATAATCACACCCCAATTATT	XP_011520470.1:n.986+206_986+227delinsGAATAATCACACCCCAATTATT
XM_011522169.2:c.798+1880_798+1901delinsGAATAATCACACCCCAATTATT	XP_011520471.1:n.798+1880_798+1901delinsGAATAATCACACCCCAATTAT...
XR_931936.2:n.1468+206_1468+227delinsGAATAATCACACCCCAATTATT
XR_931937.2:n.1411+206_1411+227delinsGAATAATCACACCCCAATTATT
XR_931938.2:n.1343+764_1343+785delinsGAATAATCACACCCCAATTATT
XR_931939.2:n.1246+1880_1246+1901delinsGAATAATCACACCCCAATTATT
NM_001321135.2:c.872+730_872+751delinsGAATAATCACACCCCAATTATT	NP_001308064.1:n.872+730_872+751delinsGAATAATCACACCCCAATTATT
NM_001321136.2:c.902+206_902+227delinsGAATAATCACACCCCAATTATT	NP_001308065.1:n.902+206_902+227delinsGAATAATCACACCCCAATTATT
NM_003978.5:c.929+206_929+227delinsGAATAATCACACCCCAATTATT MANE Select	NP_003969.2:n.929+206_929+227delinsGAATAATCACACCCCAATTATT
NR_135552.2:n.1109+1880_1109+1901delinsGAATAATCACACCCCAATTATT