Canonical Allele Identifier: CA2629651276

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032517-A-ACCCCTGCTAGGGCTTCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032517_77032518insCCCCTGCTAGGGCTTCTCT , CM000677.2:g.77032517_77032518insCCCCTGCTAGGGCTTCTCT	GRCh38
NC_000015.9:g.77324858_77324859insCCCCTGCTAGGGCTTCTCT , CM000677.1:g.77324858_77324859insCCCCTGCTAGGGCTTCTCT	GRCh37
NC_000015.8:g.75111913_75111914insCCCCTGCTAGGGCTTCTCT	NCBI36
NG_007526.1:g.42394_42395insCCCCTGCTAGGGCTTCTCT , LRG_172:g.42394_42395insCCCCTGCTAGGGCTTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1660_1661insCCCCTGCTAGGGCTTCTCT
ENST00000697623.1:n.2257+123_2257+124insCCCCTGCTAGGGCTTCTCT
ENST00000558012.6:c.838+123_838+124insCCCCTGCTAGGGCTTCTCT MANE Select	ENSP00000452746.1:n.838+123_838+124insCCCCTGCTAGGGCTTCTCT
ENST00000379595.7:c.838+123_838+124insCCCCTGCTAGGGCTTCTCT	ENSP00000368914.3:n.838+123_838+124insCCCCTGCTAGGGCTTCTCT
ENST00000557995.1:n.502+123_502+124insCCCCTGCTAGGGCTTCTCT
ENST00000558012.5:c.838+123_838+124insCCCCTGCTAGGGCTTCTCT	ENSP00000452746.1:n.838+123_838+124insCCCCTGCTAGGGCTTCTCT
ENST00000558870.1:c.78+123_78+124insCCCCTGCTAGGGCTTCTCT
ENST00000559295.5:c.872+89_872+90insCCCCTGCTAGGGCTTCTCT	ENSP00000452743.1:n.872+89_872+90insCCCCTGCTAGGGCTTCTCT
ENST00000559785.5:c.1067+89_1067+90insCCCCTGCTAGGGCTTCTCT	ENSP00000452986.1:n.1067+89_1067+90insCCCCTGCTAGGGCTTCTCT
ENST00000560223.5:c.*940+123_*940+124insCCCCTGCTAGGGCTTCTCT	ENSP00000454118.1:n.*940+123_*940+124insCCCCTGCTAGGGCTTCTCT
ENST00000560377.5:n.1202_1203insCCCCTGCTAGGGCTTCTCT
NM_003978.3:c.838+123_838+124insCCCCTGCTAGGGCTTCTCT , LRG_172t1:c.838+123_838+124insCCCCTGCTAGGGCTTCTCT	NP_003969.2:n.838+123_838+124insCCCCTGCTAGGGCTTCTCT
XM_006720737.2:c.472+123_472+124insCCCCTGCTAGGGCTTCTCT	XP_006720800.1:n.472+123_472+124insCCCCTGCTAGGGCTTCTCT
XM_011522163.1:c.895+123_895+124insCCCCTGCTAGGGCTTCTCT	XP_011520465.1:n.895+123_895+124insCCCCTGCTAGGGCTTCTCT
XM_011522164.1:c.793+123_793+124insCCCCTGCTAGGGCTTCTCT	XP_011520466.1:n.793+123_793+124insCCCCTGCTAGGGCTTCTCT
XM_011522165.1:c.691+123_691+124insCCCCTGCTAGGGCTTCTCT	XP_011520467.1:n.691+123_691+124insCCCCTGCTAGGGCTTCTCT
XM_011522166.1:c.929+89_929+90insCCCCTGCTAGGGCTTCTCT	XP_011520468.1:n.929+89_929+90insCCCCTGCTAGGGCTTCTCT
XM_011522167.1:c.895+123_895+124insCCCCTGCTAGGGCTTCTCT	XP_011520469.1:n.895+123_895+124insCCCCTGCTAGGGCTTCTCT
XM_011522168.1:c.895+123_895+124insCCCCTGCTAGGGCTTCTCT	XP_011520470.1:n.895+123_895+124insCCCCTGCTAGGGCTTCTCT
XM_011522169.1:c.798+1239_798+1240insCCCCTGCTAGGGCTTCTCT	XP_011520471.1:n.798+1239_798+1240insCCCCTGCTAGGGCTTCTCT
XM_011522170.1:c.371+2943_371+2944insCCCCTGCTAGGGCTTCTCT	XP_011520472.1:n.371+2943_371+2944insCCCCTGCTAGGGCTTCTCT
XM_011522171.1:c.311+2943_311+2944insCCCCTGCTAGGGCTTCTCT	XP_011520473.1:n.311+2943_311+2944insCCCCTGCTAGGGCTTCTCT
XM_011522172.1:c.311+2943_311+2944insCCCCTGCTAGGGCTTCTCT	XP_011520474.1:n.311+2943_311+2944insCCCCTGCTAGGGCTTCTCT
XM_011522173.1:c.311+2943_311+2944insCCCCTGCTAGGGCTTCTCT	XP_011520475.1:n.311+2943_311+2944insCCCCTGCTAGGGCTTCTCT
XR_931936.1:n.1379+89_1379+90insCCCCTGCTAGGGCTTCTCT
XR_931937.1:n.1322+89_1322+90insCCCCTGCTAGGGCTTCTCT
XR_931938.1:n.1345+123_1345+124insCCCCTGCTAGGGCTTCTCT
XR_931939.1:n.1248+1239_1248+1240insCCCCTGCTAGGGCTTCTCT
XR_931940.1:n.1069+2943_1069+2944insCCCCTGCTAGGGCTTCTCT
NM_001321135.1:c.872+89_872+90insCCCCTGCTAGGGCTTCTCT	NP_001308064.1:n.872+89_872+90insCCCCTGCTAGGGCTTCTCT
NM_001321136.1:c.811+123_811+124insCCCCTGCTAGGGCTTCTCT	NP_001308065.1:n.811+123_811+124insCCCCTGCTAGGGCTTCTCT
NM_001321137.1:c.1033+123_1033+124insCCCCTGCTAGGGCTTCTCT	NP_001308066.1:n.1033+123_1033+124insCCCCTGCTAGGGCTTCTCT
NM_003978.4:c.838+123_838+124insCCCCTGCTAGGGCTTCTCT	NP_003969.2:n.838+123_838+124insCCCCTGCTAGGGCTTCTCT
NR_135552.1:n.1150+1239_1150+1240insCCCCTGCTAGGGCTTCTCT
XM_006720737.3:c.472+123_472+124insCCCCTGCTAGGGCTTCTCT	XP_006720800.1:n.472+123_472+124insCCCCTGCTAGGGCTTCTCT
XM_011522163.2:c.895+123_895+124insCCCCTGCTAGGGCTTCTCT	XP_011520465.1:n.895+123_895+124insCCCCTGCTAGGGCTTCTCT
XM_011522165.2:c.691+123_691+124insCCCCTGCTAGGGCTTCTCT	XP_011520467.1:n.691+123_691+124insCCCCTGCTAGGGCTTCTCT
XM_011522166.2:c.929+89_929+90insCCCCTGCTAGGGCTTCTCT	XP_011520468.1:n.929+89_929+90insCCCCTGCTAGGGCTTCTCT
XM_011522167.2:c.895+123_895+124insCCCCTGCTAGGGCTTCTCT	XP_011520469.1:n.895+123_895+124insCCCCTGCTAGGGCTTCTCT
XM_011522168.3:c.895+123_895+124insCCCCTGCTAGGGCTTCTCT	XP_011520470.1:n.895+123_895+124insCCCCTGCTAGGGCTTCTCT
XM_011522169.2:c.798+1239_798+1240insCCCCTGCTAGGGCTTCTCT	XP_011520471.1:n.798+1239_798+1240insCCCCTGCTAGGGCTTCTCT
XR_931936.2:n.1377+89_1377+90insCCCCTGCTAGGGCTTCTCT
XR_931937.2:n.1320+89_1320+90insCCCCTGCTAGGGCTTCTCT
XR_931938.2:n.1343+123_1343+124insCCCCTGCTAGGGCTTCTCT
XR_931939.2:n.1246+1239_1246+1240insCCCCTGCTAGGGCTTCTCT
NM_001321135.2:c.872+89_872+90insCCCCTGCTAGGGCTTCTCT	NP_001308064.1:n.872+89_872+90insCCCCTGCTAGGGCTTCTCT
NM_001321136.2:c.811+123_811+124insCCCCTGCTAGGGCTTCTCT	NP_001308065.1:n.811+123_811+124insCCCCTGCTAGGGCTTCTCT
NM_003978.5:c.838+123_838+124insCCCCTGCTAGGGCTTCTCT MANE Select	NP_003969.2:n.838+123_838+124insCCCCTGCTAGGGCTTCTCT
NR_135552.2:n.1109+1239_1109+1240insCCCCTGCTAGGGCTTCTCT