Canonical Allele Identifier: CA971682669

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076464754

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033159_77033179del , CM000677.2:g.77033159_77033179del	GRCh38
NC_000015.9:g.77325500_77325520del , CM000677.1:g.77325500_77325520del	GRCh37
NC_000015.8:g.75112555_75112575del	NCBI36
NG_007526.1:g.43036_43056del , LRG_172:g.43036_43056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+207_2095+227del
ENST00000697623.1:n.2348+207_2348+227del
ENST00000558012.6:c.929+207_929+227del MANE Select	ENSP00000452746.1:n.929+207_929+227del
ENST00000379595.7:c.929+207_929+227del	ENSP00000368914.3:n.929+207_929+227del
ENST00000557995.1:n.593+207_593+227del
ENST00000558012.5:c.929+207_929+227del	ENSP00000452746.1:n.929+207_929+227del
ENST00000558870.1:c.78+765_78+785del
ENST00000559295.5:c.872+731_872+751del	ENSP00000452743.1:n.872+731_872+751del
ENST00000559785.5:c.1158+207_1158+227del	ENSP00000452986.1:n.1158+207_1158+227del
ENST00000560223.5:c.*1031+207_*1031+227del	ENSP00000454118.1:n.*1031+207_*1031+227del
NM_003978.3:c.929+207_929+227del , LRG_172t1:c.929+207_929+227del	NP_003969.2:n.929+207_929+227del
XM_006720737.2:c.563+207_563+227del	XP_006720800.1:n.563+207_563+227del
XM_011522163.1:c.986+207_986+227del	XP_011520465.1:n.986+207_986+227del
XM_011522164.1:c.884+207_884+227del	XP_011520466.1:n.884+207_884+227del
XM_011522165.1:c.782+207_782+227del	XP_011520467.1:n.782+207_782+227del
XM_011522166.1:c.1020+207_1020+227del	XP_011520468.1:n.1020+207_1020+227del
XM_011522167.1:c.895+765_895+785del	XP_011520469.1:n.895+765_895+785del
XM_011522168.1:c.986+207_986+227del	XP_011520470.1:n.986+207_986+227del
XM_011522169.1:c.798+1881_798+1901del	XP_011520471.1:n.798+1881_798+1901del
XM_011522170.1:c.372-2349_372-2329del	XP_011520472.1:n.372-2349_372-2329del
XM_011522171.1:c.312-2349_312-2329del	XP_011520473.1:n.312-2349_312-2329del
XM_011522172.1:c.312-2349_312-2329del	XP_011520474.1:n.312-2349_312-2329del
XM_011522173.1:c.312-2349_312-2329del	XP_011520475.1:n.312-2349_312-2329del
XR_931936.1:n.1470+207_1470+227del
XR_931937.1:n.1413+207_1413+227del
XR_931938.1:n.1345+765_1345+785del
XR_931939.1:n.1248+1881_1248+1901del
XR_931940.1:n.1070-2349_1070-2329del
NM_001321135.1:c.872+731_872+751del	NP_001308064.1:n.872+731_872+751del
NM_001321136.1:c.902+207_902+227del	NP_001308065.1:n.902+207_902+227del
NM_001321137.1:c.1124+207_1124+227del	NP_001308066.1:n.1124+207_1124+227del
NM_003978.4:c.929+207_929+227del	NP_003969.2:n.929+207_929+227del
NR_135552.1:n.1150+1881_1150+1901del
XM_006720737.3:c.563+207_563+227del	XP_006720800.1:n.563+207_563+227del
XM_011522163.2:c.986+207_986+227del	XP_011520465.1:n.986+207_986+227del
XM_011522165.2:c.782+207_782+227del	XP_011520467.1:n.782+207_782+227del
XM_011522166.2:c.1020+207_1020+227del	XP_011520468.1:n.1020+207_1020+227del
XM_011522167.2:c.895+765_895+785del	XP_011520469.1:n.895+765_895+785del
XM_011522168.3:c.986+207_986+227del	XP_011520470.1:n.986+207_986+227del
XM_011522169.2:c.798+1881_798+1901del	XP_011520471.1:n.798+1881_798+1901del
XR_931936.2:n.1468+207_1468+227del
XR_931937.2:n.1411+207_1411+227del
XR_931938.2:n.1343+765_1343+785del
XR_931939.2:n.1246+1881_1246+1901del
NM_001321135.2:c.872+731_872+751del	NP_001308064.1:n.872+731_872+751del
NM_001321136.2:c.902+207_902+227del	NP_001308065.1:n.902+207_902+227del
NM_003978.5:c.929+207_929+227del MANE Select	NP_003969.2:n.929+207_929+227del
NR_135552.2:n.1109+1881_1109+1901del