Canonical Allele Identifier: CA2188861767

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076462701
• gnomAD v4: 15-77033094-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033097_77033098del , CM000677.2:g.77033097_77033098del	GRCh38
NC_000015.9:g.77325438_77325439del , CM000677.1:g.77325438_77325439del	GRCh37
NC_000015.8:g.75112493_75112494del	NCBI36
NG_007526.1:g.42974_42975del , LRG_172:g.42974_42975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+145_2095+146del
ENST00000697623.1:n.2348+145_2348+146del
ENST00000558012.6:c.929+145_929+146del MANE Select	ENSP00000452746.1:n.929+145_929+146del
ENST00000379595.7:c.929+145_929+146del	ENSP00000368914.3:n.929+145_929+146del
ENST00000557995.1:n.593+145_593+146del
ENST00000558012.5:c.929+145_929+146del	ENSP00000452746.1:n.929+145_929+146del
ENST00000558870.1:c.78+703_78+704del
ENST00000559295.5:c.872+669_872+670del	ENSP00000452743.1:n.872+669_872+670del
ENST00000559785.5:c.1158+145_1158+146del	ENSP00000452986.1:n.1158+145_1158+146del
ENST00000560223.5:c.*1031+145_*1031+146del	ENSP00000454118.1:n.*1031+145_*1031+146del
NM_003978.3:c.929+145_929+146del , LRG_172t1:c.929+145_929+146del	NP_003969.2:n.929+145_929+146del
XM_006720737.2:c.563+145_563+146del	XP_006720800.1:n.563+145_563+146del
XM_011522163.1:c.986+145_986+146del	XP_011520465.1:n.986+145_986+146del
XM_011522164.1:c.884+145_884+146del	XP_011520466.1:n.884+145_884+146del
XM_011522165.1:c.782+145_782+146del	XP_011520467.1:n.782+145_782+146del
XM_011522166.1:c.1020+145_1020+146del	XP_011520468.1:n.1020+145_1020+146del
XM_011522167.1:c.895+703_895+704del	XP_011520469.1:n.895+703_895+704del
XM_011522168.1:c.986+145_986+146del	XP_011520470.1:n.986+145_986+146del
XM_011522169.1:c.798+1819_798+1820del	XP_011520471.1:n.798+1819_798+1820del
XM_011522170.1:c.372-2411_372-2410del	XP_011520472.1:n.372-2411_372-2410del
XM_011522171.1:c.312-2411_312-2410del	XP_011520473.1:n.312-2411_312-2410del
XM_011522172.1:c.312-2411_312-2410del	XP_011520474.1:n.312-2411_312-2410del
XM_011522173.1:c.312-2411_312-2410del	XP_011520475.1:n.312-2411_312-2410del
XR_931936.1:n.1470+145_1470+146del
XR_931937.1:n.1413+145_1413+146del
XR_931938.1:n.1345+703_1345+704del
XR_931939.1:n.1248+1819_1248+1820del
XR_931940.1:n.1070-2411_1070-2410del
NM_001321135.1:c.872+669_872+670del	NP_001308064.1:n.872+669_872+670del
NM_001321136.1:c.902+145_902+146del	NP_001308065.1:n.902+145_902+146del
NM_001321137.1:c.1124+145_1124+146del	NP_001308066.1:n.1124+145_1124+146del
NM_003978.4:c.929+145_929+146del	NP_003969.2:n.929+145_929+146del
NR_135552.1:n.1150+1819_1150+1820del
XM_006720737.3:c.563+145_563+146del	XP_006720800.1:n.563+145_563+146del
XM_011522163.2:c.986+145_986+146del	XP_011520465.1:n.986+145_986+146del
XM_011522165.2:c.782+145_782+146del	XP_011520467.1:n.782+145_782+146del
XM_011522166.2:c.1020+145_1020+146del	XP_011520468.1:n.1020+145_1020+146del
XM_011522167.2:c.895+703_895+704del	XP_011520469.1:n.895+703_895+704del
XM_011522168.3:c.986+145_986+146del	XP_011520470.1:n.986+145_986+146del
XM_011522169.2:c.798+1819_798+1820del	XP_011520471.1:n.798+1819_798+1820del
XR_931936.2:n.1468+145_1468+146del
XR_931937.2:n.1411+145_1411+146del
XR_931938.2:n.1343+703_1343+704del
XR_931939.2:n.1246+1819_1246+1820del
NM_001321135.2:c.872+669_872+670del	NP_001308064.1:n.872+669_872+670del
NM_001321136.2:c.902+145_902+146del	NP_001308065.1:n.902+145_902+146del
NM_003978.5:c.929+145_929+146del MANE Select	NP_003969.2:n.929+145_929+146del
NR_135552.2:n.1109+1819_1109+1820del