Canonical Allele Identifier: CA2629651619

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032599-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032601del , CM000677.2:g.77032601del	GRCh38
NC_000015.9:g.77324942del , CM000677.1:g.77324942del	GRCh37
NC_000015.8:g.75111997del	NCBI36
NG_007526.1:g.42478del , LRG_172:g.42478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1744del
ENST00000697623.1:n.2257+207del
ENST00000558012.6:c.838+207del MANE Select	ENSP00000452746.1:n.838+207del
ENST00000379595.7:c.838+207del	ENSP00000368914.3:n.838+207del
ENST00000557995.1:n.502+207del
ENST00000558012.5:c.838+207del	ENSP00000452746.1:n.838+207del
ENST00000558870.1:c.78+207del
ENST00000559295.5:c.872+173del	ENSP00000452743.1:n.872+173del
ENST00000559785.5:c.1067+173del	ENSP00000452986.1:n.1067+173del
ENST00000560223.5:c.*940+207del	ENSP00000454118.1:n.*940+207del
ENST00000560377.5:n.1286del
NM_003978.3:c.838+207del , LRG_172t1:c.838+207del	NP_003969.2:n.838+207del
XM_006720737.2:c.472+207del	XP_006720800.1:n.472+207del
XM_011522163.1:c.895+207del	XP_011520465.1:n.895+207del
XM_011522164.1:c.793+207del	XP_011520466.1:n.793+207del
XM_011522165.1:c.691+207del	XP_011520467.1:n.691+207del
XM_011522166.1:c.929+173del	XP_011520468.1:n.929+173del
XM_011522167.1:c.895+207del	XP_011520469.1:n.895+207del
XM_011522168.1:c.895+207del	XP_011520470.1:n.895+207del
XM_011522169.1:c.798+1323del	XP_011520471.1:n.798+1323del
XM_011522170.1:c.372-2907del	XP_011520472.1:n.372-2907del
XM_011522171.1:c.312-2907del	XP_011520473.1:n.312-2907del
XM_011522172.1:c.312-2907del	XP_011520474.1:n.312-2907del
XM_011522173.1:c.312-2907del	XP_011520475.1:n.312-2907del
XR_931936.1:n.1379+173del
XR_931937.1:n.1322+173del
XR_931938.1:n.1345+207del
XR_931939.1:n.1248+1323del
XR_931940.1:n.1070-2907del
NM_001321135.1:c.872+173del	NP_001308064.1:n.872+173del
NM_001321136.1:c.811+207del	NP_001308065.1:n.811+207del
NM_001321137.1:c.1033+207del	NP_001308066.1:n.1033+207del
NM_003978.4:c.838+207del	NP_003969.2:n.838+207del
NR_135552.1:n.1150+1323del
XM_006720737.3:c.472+207del	XP_006720800.1:n.472+207del
XM_011522163.2:c.895+207del	XP_011520465.1:n.895+207del
XM_011522165.2:c.691+207del	XP_011520467.1:n.691+207del
XM_011522166.2:c.929+173del	XP_011520468.1:n.929+173del
XM_011522167.2:c.895+207del	XP_011520469.1:n.895+207del
XM_011522168.3:c.895+207del	XP_011520470.1:n.895+207del
XM_011522169.2:c.798+1323del	XP_011520471.1:n.798+1323del
XR_931936.2:n.1377+173del
XR_931937.2:n.1320+173del
XR_931938.2:n.1343+207del
XR_931939.2:n.1246+1323del
NM_001321135.2:c.872+173del	NP_001308064.1:n.872+173del
NM_001321136.2:c.811+207del	NP_001308065.1:n.811+207del
NM_003978.5:c.838+207del MANE Select	NP_003969.2:n.838+207del
NR_135552.2:n.1109+1323del