Canonical Allele Identifier: CA2629651911

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032724-A-ACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032724_77032725insCGG , CM000677.2:g.77032724_77032725insCGG	GRCh38
NC_000015.9:g.77325065_77325066insCGG , CM000677.1:g.77325065_77325066insCGG	GRCh37
NC_000015.8:g.75112120_75112121insCGG	NCBI36
NG_007526.1:g.42601_42602insCGG , LRG_172:g.42601_42602insCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1867_1868insCGG
ENST00000697623.1:n.2258-138_2258-137insCGG
ENST00000558012.6:c.839-138_839-137insCGG MANE Select	ENSP00000452746.1:n.839-138_839-137insCGG
ENST00000379595.7:c.839-138_839-137insCGG	ENSP00000368914.3:n.839-138_839-137insCGG
ENST00000557995.1:n.503-138_503-137insCGG
ENST00000558012.5:c.839-138_839-137insCGG	ENSP00000452746.1:n.839-138_839-137insCGG
ENST00000558870.1:c.78+330_78+331insCGG
ENST00000559295.5:c.872+296_872+297insCGG	ENSP00000452743.1:n.872+296_872+297insCGG
ENST00000559785.5:c.1068-138_1068-137insCGG	ENSP00000452986.1:n.1068-138_1068-137insCGG
ENST00000560223.5:c.*941-138_*941-137insCGG	ENSP00000454118.1:n.*941-138_*941-137insCGG
ENST00000560377.5:n.1409_1410insCGG
NM_003978.3:c.839-138_839-137insCGG , LRG_172t1:c.839-138_839-137insCGG	NP_003969.2:n.839-138_839-137insCGG
XM_006720737.2:c.473-138_473-137insCGG	XP_006720800.1:n.473-138_473-137insCGG
XM_011522163.1:c.896-138_896-137insCGG	XP_011520465.1:n.896-138_896-137insCGG
XM_011522164.1:c.794-138_794-137insCGG	XP_011520466.1:n.794-138_794-137insCGG
XM_011522165.1:c.692-138_692-137insCGG	XP_011520467.1:n.692-138_692-137insCGG
XM_011522166.1:c.930-138_930-137insCGG	XP_011520468.1:n.930-138_930-137insCGG
XM_011522167.1:c.895+330_895+331insCGG	XP_011520469.1:n.895+330_895+331insCGG
XM_011522168.1:c.896-138_896-137insCGG	XP_011520470.1:n.896-138_896-137insCGG
XM_011522169.1:c.798+1446_798+1447insCGG	XP_011520471.1:n.798+1446_798+1447insCGG
XM_011522170.1:c.372-2784_372-2783insCGG	XP_011520472.1:n.372-2784_372-2783insCGG
XM_011522171.1:c.312-2784_312-2783insCGG	XP_011520473.1:n.312-2784_312-2783insCGG
XM_011522172.1:c.312-2784_312-2783insCGG	XP_011520474.1:n.312-2784_312-2783insCGG
XM_011522173.1:c.312-2784_312-2783insCGG	XP_011520475.1:n.312-2784_312-2783insCGG
XR_931936.1:n.1380-138_1380-137insCGG
XR_931937.1:n.1323-138_1323-137insCGG
XR_931938.1:n.1345+330_1345+331insCGG
XR_931939.1:n.1248+1446_1248+1447insCGG
XR_931940.1:n.1070-2784_1070-2783insCGG
NM_001321135.1:c.872+296_872+297insCGG	NP_001308064.1:n.872+296_872+297insCGG
NM_001321136.1:c.812-138_812-137insCGG	NP_001308065.1:n.812-138_812-137insCGG
NM_001321137.1:c.1034-138_1034-137insCGG	NP_001308066.1:n.1034-138_1034-137insCGG
NM_003978.4:c.839-138_839-137insCGG	NP_003969.2:n.839-138_839-137insCGG
NR_135552.1:n.1150+1446_1150+1447insCGG
XM_006720737.3:c.473-138_473-137insCGG	XP_006720800.1:n.473-138_473-137insCGG
XM_011522163.2:c.896-138_896-137insCGG	XP_011520465.1:n.896-138_896-137insCGG
XM_011522165.2:c.692-138_692-137insCGG	XP_011520467.1:n.692-138_692-137insCGG
XM_011522166.2:c.930-138_930-137insCGG	XP_011520468.1:n.930-138_930-137insCGG
XM_011522167.2:c.895+330_895+331insCGG	XP_011520469.1:n.895+330_895+331insCGG
XM_011522168.3:c.896-138_896-137insCGG	XP_011520470.1:n.896-138_896-137insCGG
XM_011522169.2:c.798+1446_798+1447insCGG	XP_011520471.1:n.798+1446_798+1447insCGG
XR_931936.2:n.1378-138_1378-137insCGG
XR_931937.2:n.1321-138_1321-137insCGG
XR_931938.2:n.1343+330_1343+331insCGG
XR_931939.2:n.1246+1446_1246+1447insCGG
NM_001321135.2:c.872+296_872+297insCGG	NP_001308064.1:n.872+296_872+297insCGG
NM_001321136.2:c.812-138_812-137insCGG	NP_001308065.1:n.812-138_812-137insCGG
NM_003978.5:c.839-138_839-137insCGG MANE Select	NP_003969.2:n.839-138_839-137insCGG
NR_135552.2:n.1109+1446_1109+1447insCGG