Canonical Allele Identifier: CA2629652688

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032946-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032949del , CM000677.2:g.77032949del	GRCh38
NC_000015.9:g.77325290del , CM000677.1:g.77325290del	GRCh37
NC_000015.8:g.75112345del	NCBI36
NG_007526.1:g.42826del , LRG_172:g.42826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2092del
ENST00000697623.1:n.2345del
ENST00000558012.6:c.926del MANE Select	ENSP00000452746.1:p.Lys309ArgfsTer26
ENST00000379595.7:c.926del	ENSP00000368914.3:p.Lys309ArgfsTer23
ENST00000557995.1:n.590del
ENST00000558012.5:c.926del	ENSP00000452746.1:p.Lys309ArgfsTer26
ENST00000558870.1:c.78+555del
ENST00000559295.5:c.872+521del	ENSP00000452743.1:n.872+521del
ENST00000559785.5:c.1155del	ENSP00000452986.1:p.Glu386ArgfsTer?
ENST00000560223.5:c.*1028del	ENSP00000454118.1:n.*1028del
NM_003978.3:c.926del , LRG_172t1:c.926del	NP_003969.2:p.Lys309ArgfsTer26
XM_006720737.2:c.560del	XP_006720800.1:p.Lys187ArgfsTer26
XM_011522163.1:c.983del	XP_011520465.1:p.Lys328ArgfsTer23
XM_011522164.1:c.881del	XP_011520466.1:p.Lys294ArgfsTer26
XM_011522165.1:c.779del	XP_011520467.1:p.Lys260ArgfsTer26
XM_011522166.1:c.1017del	XP_011520468.1:p.Glu340ArgfsTer?
XM_011522167.1:c.895+555del	XP_011520469.1:n.895+555del
XM_011522168.1:c.983del	XP_011520470.1:p.Lys328ArgfsTer26
XM_011522169.1:c.798+1671del	XP_011520471.1:n.798+1671del
XM_011522170.1:c.372-2559del	XP_011520472.1:n.372-2559del
XM_011522171.1:c.312-2559del	XP_011520473.1:n.312-2559del
XM_011522172.1:c.312-2559del	XP_011520474.1:n.312-2559del
XM_011522173.1:c.312-2559del	XP_011520475.1:n.312-2559del
XR_931936.1:n.1467del
XR_931937.1:n.1410del
XR_931938.1:n.1345+555del
XR_931939.1:n.1248+1671del
XR_931940.1:n.1070-2559del
NM_001321135.1:c.872+521del	NP_001308064.1:n.872+521del
NM_001321136.1:c.899del	NP_001308065.1:p.Lys300ArgfsTer26
NM_001321137.1:c.1121del	NP_001308066.1:p.Lys374ArgfsTer26
NM_003978.4:c.926del	NP_003969.2:p.Lys309ArgfsTer26
NR_135552.1:n.1150+1671del
XM_006720737.3:c.560del	XP_006720800.1:p.Lys187ArgfsTer26
XM_011522163.2:c.983del	XP_011520465.1:p.Lys328ArgfsTer23
XM_011522165.2:c.779del	XP_011520467.1:p.Lys260ArgfsTer26
XM_011522166.2:c.1017del	XP_011520468.1:p.Glu340ArgfsTer?
XM_011522167.2:c.895+555del	XP_011520469.1:n.895+555del
XM_011522168.3:c.983del	XP_011520470.1:p.Lys328ArgfsTer26
XM_011522169.2:c.798+1671del	XP_011520471.1:n.798+1671del
XR_931936.2:n.1465del
XR_931937.2:n.1408del
XR_931938.2:n.1343+555del
XR_931939.2:n.1246+1671del
NM_001321135.2:c.872+521del	NP_001308064.1:n.872+521del
NM_001321136.2:c.899del	NP_001308065.1:p.Lys300ArgfsTer26
NM_003978.5:c.926del MANE Select	NP_003969.2:p.Lys309ArgfsTer26
NR_135552.2:n.1109+1671del