Canonical Allele Identifier: CA2629651618

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032599-A-AG

Genomic Alleles

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

Transcript Alleles

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