Canonical Allele Identifier: CA2629651265

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032511-C-CTTCTCTGCCCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032511_77032512insTTCTCTGCCCTGA , CM000677.2:g.77032511_77032512insTTCTCTGCCCTGA	GRCh38
NC_000015.9:g.77324852_77324853insTTCTCTGCCCTGA , CM000677.1:g.77324852_77324853insTTCTCTGCCCTGA	GRCh37
NC_000015.8:g.75111907_75111908insTTCTCTGCCCTGA	NCBI36
NG_007526.1:g.42388_42389insTTCTCTGCCCTGA , LRG_172:g.42388_42389insTTCTCTGCCCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1654_1655insTTCTCTGCCCTGA
ENST00000697623.1:n.2257+117_2257+118insTTCTCTGCCCTGA
ENST00000558012.6:c.838+117_838+118insTTCTCTGCCCTGA MANE Select	ENSP00000452746.1:n.838+117_838+118insTTCTCTGCCCTGA
ENST00000379595.7:c.838+117_838+118insTTCTCTGCCCTGA	ENSP00000368914.3:n.838+117_838+118insTTCTCTGCCCTGA
ENST00000557995.1:n.502+117_502+118insTTCTCTGCCCTGA
ENST00000558012.5:c.838+117_838+118insTTCTCTGCCCTGA	ENSP00000452746.1:n.838+117_838+118insTTCTCTGCCCTGA
ENST00000558870.1:c.78+117_78+118insTTCTCTGCCCTGA
ENST00000559295.5:c.872+83_872+84insTTCTCTGCCCTGA	ENSP00000452743.1:n.872+83_872+84insTTCTCTGCCCTGA
ENST00000559785.5:c.1067+83_1067+84insTTCTCTGCCCTGA	ENSP00000452986.1:n.1067+83_1067+84insTTCTCTGCCCTGA
ENST00000560223.5:c.*940+117_*940+118insTTCTCTGCCCTGA	ENSP00000454118.1:n.*940+117_*940+118insTTCTCTGCCCTGA
ENST00000560377.5:n.1196_1197insTTCTCTGCCCTGA
NM_003978.3:c.838+117_838+118insTTCTCTGCCCTGA , LRG_172t1:c.838+117_838+118insTTCTCTGCCCTGA	NP_003969.2:n.838+117_838+118insTTCTCTGCCCTGA
XM_006720737.2:c.472+117_472+118insTTCTCTGCCCTGA	XP_006720800.1:n.472+117_472+118insTTCTCTGCCCTGA
XM_011522163.1:c.895+117_895+118insTTCTCTGCCCTGA	XP_011520465.1:n.895+117_895+118insTTCTCTGCCCTGA
XM_011522164.1:c.793+117_793+118insTTCTCTGCCCTGA	XP_011520466.1:n.793+117_793+118insTTCTCTGCCCTGA
XM_011522165.1:c.691+117_691+118insTTCTCTGCCCTGA	XP_011520467.1:n.691+117_691+118insTTCTCTGCCCTGA
XM_011522166.1:c.929+83_929+84insTTCTCTGCCCTGA	XP_011520468.1:n.929+83_929+84insTTCTCTGCCCTGA
XM_011522167.1:c.895+117_895+118insTTCTCTGCCCTGA	XP_011520469.1:n.895+117_895+118insTTCTCTGCCCTGA
XM_011522168.1:c.895+117_895+118insTTCTCTGCCCTGA	XP_011520470.1:n.895+117_895+118insTTCTCTGCCCTGA
XM_011522169.1:c.798+1233_798+1234insTTCTCTGCCCTGA	XP_011520471.1:n.798+1233_798+1234insTTCTCTGCCCTGA
XM_011522170.1:c.371+2937_371+2938insTTCTCTGCCCTGA	XP_011520472.1:n.371+2937_371+2938insTTCTCTGCCCTGA
XM_011522171.1:c.311+2937_311+2938insTTCTCTGCCCTGA	XP_011520473.1:n.311+2937_311+2938insTTCTCTGCCCTGA
XM_011522172.1:c.311+2937_311+2938insTTCTCTGCCCTGA	XP_011520474.1:n.311+2937_311+2938insTTCTCTGCCCTGA
XM_011522173.1:c.311+2937_311+2938insTTCTCTGCCCTGA	XP_011520475.1:n.311+2937_311+2938insTTCTCTGCCCTGA
XR_931936.1:n.1379+83_1379+84insTTCTCTGCCCTGA
XR_931937.1:n.1322+83_1322+84insTTCTCTGCCCTGA
XR_931938.1:n.1345+117_1345+118insTTCTCTGCCCTGA
XR_931939.1:n.1248+1233_1248+1234insTTCTCTGCCCTGA
XR_931940.1:n.1069+2937_1069+2938insTTCTCTGCCCTGA
NM_001321135.1:c.872+83_872+84insTTCTCTGCCCTGA	NP_001308064.1:n.872+83_872+84insTTCTCTGCCCTGA
NM_001321136.1:c.811+117_811+118insTTCTCTGCCCTGA	NP_001308065.1:n.811+117_811+118insTTCTCTGCCCTGA
NM_001321137.1:c.1033+117_1033+118insTTCTCTGCCCTGA	NP_001308066.1:n.1033+117_1033+118insTTCTCTGCCCTGA
NM_003978.4:c.838+117_838+118insTTCTCTGCCCTGA	NP_003969.2:n.838+117_838+118insTTCTCTGCCCTGA
NR_135552.1:n.1150+1233_1150+1234insTTCTCTGCCCTGA
XM_006720737.3:c.472+117_472+118insTTCTCTGCCCTGA	XP_006720800.1:n.472+117_472+118insTTCTCTGCCCTGA
XM_011522163.2:c.895+117_895+118insTTCTCTGCCCTGA	XP_011520465.1:n.895+117_895+118insTTCTCTGCCCTGA
XM_011522165.2:c.691+117_691+118insTTCTCTGCCCTGA	XP_011520467.1:n.691+117_691+118insTTCTCTGCCCTGA
XM_011522166.2:c.929+83_929+84insTTCTCTGCCCTGA	XP_011520468.1:n.929+83_929+84insTTCTCTGCCCTGA
XM_011522167.2:c.895+117_895+118insTTCTCTGCCCTGA	XP_011520469.1:n.895+117_895+118insTTCTCTGCCCTGA
XM_011522168.3:c.895+117_895+118insTTCTCTGCCCTGA	XP_011520470.1:n.895+117_895+118insTTCTCTGCCCTGA
XM_011522169.2:c.798+1233_798+1234insTTCTCTGCCCTGA	XP_011520471.1:n.798+1233_798+1234insTTCTCTGCCCTGA
XR_931936.2:n.1377+83_1377+84insTTCTCTGCCCTGA
XR_931937.2:n.1320+83_1320+84insTTCTCTGCCCTGA
XR_931938.2:n.1343+117_1343+118insTTCTCTGCCCTGA
XR_931939.2:n.1246+1233_1246+1234insTTCTCTGCCCTGA
NM_001321135.2:c.872+83_872+84insTTCTCTGCCCTGA	NP_001308064.1:n.872+83_872+84insTTCTCTGCCCTGA
NM_001321136.2:c.811+117_811+118insTTCTCTGCCCTGA	NP_001308065.1:n.811+117_811+118insTTCTCTGCCCTGA
NM_003978.5:c.838+117_838+118insTTCTCTGCCCTGA MANE Select	NP_003969.2:n.838+117_838+118insTTCTCTGCCCTGA
NR_135552.2:n.1109+1233_1109+1234insTTCTCTGCCCTGA