Canonical Allele Identifier: CA2629651341

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032535-G-GTATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032535_77032536insTATAA , CM000677.2:g.77032535_77032536insTATAA	GRCh38
NC_000015.9:g.77324876_77324877insTATAA , CM000677.1:g.77324876_77324877insTATAA	GRCh37
NC_000015.8:g.75111931_75111932insTATAA	NCBI36
NG_007526.1:g.42412_42413insTATAA , LRG_172:g.42412_42413insTATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1678_1679insTATAA
ENST00000697623.1:n.2257+141_2257+142insTATAA
ENST00000558012.6:c.838+141_838+142insTATAA MANE Select	ENSP00000452746.1:n.838+141_838+142insTATAA
ENST00000379595.7:c.838+141_838+142insTATAA	ENSP00000368914.3:n.838+141_838+142insTATAA
ENST00000557995.1:n.502+141_502+142insTATAA
ENST00000558012.5:c.838+141_838+142insTATAA	ENSP00000452746.1:n.838+141_838+142insTATAA
ENST00000558870.1:c.78+141_78+142insTATAA
ENST00000559295.5:c.872+107_872+108insTATAA	ENSP00000452743.1:n.872+107_872+108insTATAA
ENST00000559785.5:c.1067+107_1067+108insTATAA	ENSP00000452986.1:n.1067+107_1067+108insTATAA
ENST00000560223.5:c.*940+141_*940+142insTATAA	ENSP00000454118.1:n.*940+141_*940+142insTATAA
ENST00000560377.5:n.1220_1221insTATAA
NM_003978.3:c.838+141_838+142insTATAA , LRG_172t1:c.838+141_838+142insTATAA	NP_003969.2:n.838+141_838+142insTATAA
XM_006720737.2:c.472+141_472+142insTATAA	XP_006720800.1:n.472+141_472+142insTATAA
XM_011522163.1:c.895+141_895+142insTATAA	XP_011520465.1:n.895+141_895+142insTATAA
XM_011522164.1:c.793+141_793+142insTATAA	XP_011520466.1:n.793+141_793+142insTATAA
XM_011522165.1:c.691+141_691+142insTATAA	XP_011520467.1:n.691+141_691+142insTATAA
XM_011522166.1:c.929+107_929+108insTATAA	XP_011520468.1:n.929+107_929+108insTATAA
XM_011522167.1:c.895+141_895+142insTATAA	XP_011520469.1:n.895+141_895+142insTATAA
XM_011522168.1:c.895+141_895+142insTATAA	XP_011520470.1:n.895+141_895+142insTATAA
XM_011522169.1:c.798+1257_798+1258insTATAA	XP_011520471.1:n.798+1257_798+1258insTATAA
XM_011522170.1:c.371+2961_371+2962insTATAA	XP_011520472.1:n.371+2961_371+2962insTATAA
XM_011522171.1:c.311+2961_311+2962insTATAA	XP_011520473.1:n.311+2961_311+2962insTATAA
XM_011522172.1:c.311+2961_311+2962insTATAA	XP_011520474.1:n.311+2961_311+2962insTATAA
XM_011522173.1:c.311+2961_311+2962insTATAA	XP_011520475.1:n.311+2961_311+2962insTATAA
XR_931936.1:n.1379+107_1379+108insTATAA
XR_931937.1:n.1322+107_1322+108insTATAA
XR_931938.1:n.1345+141_1345+142insTATAA
XR_931939.1:n.1248+1257_1248+1258insTATAA
XR_931940.1:n.1069+2961_1069+2962insTATAA
NM_001321135.1:c.872+107_872+108insTATAA	NP_001308064.1:n.872+107_872+108insTATAA
NM_001321136.1:c.811+141_811+142insTATAA	NP_001308065.1:n.811+141_811+142insTATAA
NM_001321137.1:c.1033+141_1033+142insTATAA	NP_001308066.1:n.1033+141_1033+142insTATAA
NM_003978.4:c.838+141_838+142insTATAA	NP_003969.2:n.838+141_838+142insTATAA
NR_135552.1:n.1150+1257_1150+1258insTATAA
XM_006720737.3:c.472+141_472+142insTATAA	XP_006720800.1:n.472+141_472+142insTATAA
XM_011522163.2:c.895+141_895+142insTATAA	XP_011520465.1:n.895+141_895+142insTATAA
XM_011522165.2:c.691+141_691+142insTATAA	XP_011520467.1:n.691+141_691+142insTATAA
XM_011522166.2:c.929+107_929+108insTATAA	XP_011520468.1:n.929+107_929+108insTATAA
XM_011522167.2:c.895+141_895+142insTATAA	XP_011520469.1:n.895+141_895+142insTATAA
XM_011522168.3:c.895+141_895+142insTATAA	XP_011520470.1:n.895+141_895+142insTATAA
XM_011522169.2:c.798+1257_798+1258insTATAA	XP_011520471.1:n.798+1257_798+1258insTATAA
XR_931936.2:n.1377+107_1377+108insTATAA
XR_931937.2:n.1320+107_1320+108insTATAA
XR_931938.2:n.1343+141_1343+142insTATAA
XR_931939.2:n.1246+1257_1246+1258insTATAA
NM_001321135.2:c.872+107_872+108insTATAA	NP_001308064.1:n.872+107_872+108insTATAA
NM_001321136.2:c.811+141_811+142insTATAA	NP_001308065.1:n.811+141_811+142insTATAA
NM_003978.5:c.838+141_838+142insTATAA MANE Select	NP_003969.2:n.838+141_838+142insTATAA
NR_135552.2:n.1109+1257_1109+1258insTATAA