Canonical Allele Identifier: CA715849000

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs1426367553
• gnomAD v4: 15-77033010-CCCT-C
• MyVariant Identifiers: chr15:g.77325352_77325354del (hg19) ; chr15:g.77033011_77033013del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033015_77033017del , CM000677.2:g.77033015_77033017del	GRCh38
NC_000015.9:g.77325356_77325358del , CM000677.1:g.77325356_77325358del	GRCh37
NC_000015.8:g.75112411_75112413del	NCBI36
NG_007526.1:g.42892_42894del , LRG_172:g.42892_42894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+63_2095+65del
ENST00000697623.1:n.2348+63_2348+65del
ENST00000558012.6:c.929+63_929+65del MANE Select	ENSP00000452746.1:n.929+63_929+65del
ENST00000379595.7:c.929+63_929+65del	ENSP00000368914.3:n.929+63_929+65del
ENST00000557995.1:n.593+63_593+65del
ENST00000558012.5:c.929+63_929+65del	ENSP00000452746.1:n.929+63_929+65del
ENST00000558870.1:c.78+621_78+623del
ENST00000559295.5:c.872+587_872+589del	ENSP00000452743.1:n.872+587_872+589del
ENST00000559785.5:c.1158+63_1158+65del	ENSP00000452986.1:n.1158+63_1158+65del
ENST00000560223.5:c.*1031+63_*1031+65del	ENSP00000454118.1:n.*1031+63_*1031+65del
NM_003978.3:c.929+63_929+65del , LRG_172t1:c.929+63_929+65del	NP_003969.2:n.929+63_929+65del
XM_006720737.2:c.563+63_563+65del	XP_006720800.1:n.563+63_563+65del
XM_011522163.1:c.986+63_986+65del	XP_011520465.1:n.986+63_986+65del
XM_011522164.1:c.884+63_884+65del	XP_011520466.1:n.884+63_884+65del
XM_011522165.1:c.782+63_782+65del	XP_011520467.1:n.782+63_782+65del
XM_011522166.1:c.1020+63_1020+65del	XP_011520468.1:n.1020+63_1020+65del
XM_011522167.1:c.895+621_895+623del	XP_011520469.1:n.895+621_895+623del
XM_011522168.1:c.986+63_986+65del	XP_011520470.1:n.986+63_986+65del
XM_011522169.1:c.798+1737_798+1739del	XP_011520471.1:n.798+1737_798+1739del
XM_011522170.1:c.372-2493_372-2491del	XP_011520472.1:n.372-2493_372-2491del
XM_011522171.1:c.312-2493_312-2491del	XP_011520473.1:n.312-2493_312-2491del
XM_011522172.1:c.312-2493_312-2491del	XP_011520474.1:n.312-2493_312-2491del
XM_011522173.1:c.312-2493_312-2491del	XP_011520475.1:n.312-2493_312-2491del
XR_931936.1:n.1470+63_1470+65del
XR_931937.1:n.1413+63_1413+65del
XR_931938.1:n.1345+621_1345+623del
XR_931939.1:n.1248+1737_1248+1739del
XR_931940.1:n.1070-2493_1070-2491del
NM_001321135.1:c.872+587_872+589del	NP_001308064.1:n.872+587_872+589del
NM_001321136.1:c.902+63_902+65del	NP_001308065.1:n.902+63_902+65del
NM_001321137.1:c.1124+63_1124+65del	NP_001308066.1:n.1124+63_1124+65del
NM_003978.4:c.929+63_929+65del	NP_003969.2:n.929+63_929+65del
NR_135552.1:n.1150+1737_1150+1739del
XM_006720737.3:c.563+63_563+65del	XP_006720800.1:n.563+63_563+65del
XM_011522163.2:c.986+63_986+65del	XP_011520465.1:n.986+63_986+65del
XM_011522165.2:c.782+63_782+65del	XP_011520467.1:n.782+63_782+65del
XM_011522166.2:c.1020+63_1020+65del	XP_011520468.1:n.1020+63_1020+65del
XM_011522167.2:c.895+621_895+623del	XP_011520469.1:n.895+621_895+623del
XM_011522168.3:c.986+63_986+65del	XP_011520470.1:n.986+63_986+65del
XM_011522169.2:c.798+1737_798+1739del	XP_011520471.1:n.798+1737_798+1739del
XR_931936.2:n.1468+63_1468+65del
XR_931937.2:n.1411+63_1411+65del
XR_931938.2:n.1343+621_1343+623del
XR_931939.2:n.1246+1737_1246+1739del
NM_001321135.2:c.872+587_872+589del	NP_001308064.1:n.872+587_872+589del
NM_001321136.2:c.902+63_902+65del	NP_001308065.1:n.902+63_902+65del
NM_003978.5:c.929+63_929+65del MANE Select	NP_003969.2:n.929+63_929+65del
NR_135552.2:n.1109+1737_1109+1739del