Canonical Allele Identifier: CA2188861471

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076447295
• gnomAD v4: 15-77032559-GCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032564_77032566del , CM000677.2:g.77032564_77032566del	GRCh38
NC_000015.9:g.77324905_77324907del , CM000677.1:g.77324905_77324907del	GRCh37
NC_000015.8:g.75111960_75111962del	NCBI36
NG_007526.1:g.42441_42443del , LRG_172:g.42441_42443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1707_1709del
ENST00000697623.1:n.2257+170_2257+172del
ENST00000558012.6:c.838+170_838+172del MANE Select	ENSP00000452746.1:n.838+170_838+172del
ENST00000379595.7:c.838+170_838+172del	ENSP00000368914.3:n.838+170_838+172del
ENST00000557995.1:n.502+170_502+172del
ENST00000558012.5:c.838+170_838+172del	ENSP00000452746.1:n.838+170_838+172del
ENST00000558870.1:c.78+170_78+172del
ENST00000559295.5:c.872+136_872+138del	ENSP00000452743.1:n.872+136_872+138del
ENST00000559785.5:c.1067+136_1067+138del	ENSP00000452986.1:n.1067+136_1067+138del
ENST00000560223.5:c.*940+170_*940+172del	ENSP00000454118.1:n.*940+170_*940+172del
ENST00000560377.5:n.1249_1251del
NM_003978.3:c.838+170_838+172del , LRG_172t1:c.838+170_838+172del	NP_003969.2:n.838+170_838+172del
XM_006720737.2:c.472+170_472+172del	XP_006720800.1:n.472+170_472+172del
XM_011522163.1:c.895+170_895+172del	XP_011520465.1:n.895+170_895+172del
XM_011522164.1:c.793+170_793+172del	XP_011520466.1:n.793+170_793+172del
XM_011522165.1:c.691+170_691+172del	XP_011520467.1:n.691+170_691+172del
XM_011522166.1:c.929+136_929+138del	XP_011520468.1:n.929+136_929+138del
XM_011522167.1:c.895+170_895+172del	XP_011520469.1:n.895+170_895+172del
XM_011522168.1:c.895+170_895+172del	XP_011520470.1:n.895+170_895+172del
XM_011522169.1:c.798+1286_798+1288del	XP_011520471.1:n.798+1286_798+1288del
XM_011522170.1:c.372-2944_372-2942del	XP_011520472.1:n.372-2944_372-2942del
XM_011522171.1:c.312-2944_312-2942del	XP_011520473.1:n.312-2944_312-2942del
XM_011522172.1:c.312-2944_312-2942del	XP_011520474.1:n.312-2944_312-2942del
XM_011522173.1:c.312-2944_312-2942del	XP_011520475.1:n.312-2944_312-2942del
XR_931936.1:n.1379+136_1379+138del
XR_931937.1:n.1322+136_1322+138del
XR_931938.1:n.1345+170_1345+172del
XR_931939.1:n.1248+1286_1248+1288del
XR_931940.1:n.1070-2944_1070-2942del
NM_001321135.1:c.872+136_872+138del	NP_001308064.1:n.872+136_872+138del
NM_001321136.1:c.811+170_811+172del	NP_001308065.1:n.811+170_811+172del
NM_001321137.1:c.1033+170_1033+172del	NP_001308066.1:n.1033+170_1033+172del
NM_003978.4:c.838+170_838+172del	NP_003969.2:n.838+170_838+172del
NR_135552.1:n.1150+1286_1150+1288del
XM_006720737.3:c.472+170_472+172del	XP_006720800.1:n.472+170_472+172del
XM_011522163.2:c.895+170_895+172del	XP_011520465.1:n.895+170_895+172del
XM_011522165.2:c.691+170_691+172del	XP_011520467.1:n.691+170_691+172del
XM_011522166.2:c.929+136_929+138del	XP_011520468.1:n.929+136_929+138del
XM_011522167.2:c.895+170_895+172del	XP_011520469.1:n.895+170_895+172del
XM_011522168.3:c.895+170_895+172del	XP_011520470.1:n.895+170_895+172del
XM_011522169.2:c.798+1286_798+1288del	XP_011520471.1:n.798+1286_798+1288del
XR_931936.2:n.1377+136_1377+138del
XR_931937.2:n.1320+136_1320+138del
XR_931938.2:n.1343+170_1343+172del
XR_931939.2:n.1246+1286_1246+1288del
NM_001321135.2:c.872+136_872+138del	NP_001308064.1:n.872+136_872+138del
NM_001321136.2:c.811+170_811+172del	NP_001308065.1:n.811+170_811+172del
NM_003978.5:c.838+170_838+172del MANE Select	NP_003969.2:n.838+170_838+172del
NR_135552.2:n.1109+1286_1109+1288del