Canonical Allele Identifier: CA2188861548

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076450983
• gnomAD v4: 15-77032717-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032722_77032723del , CM000677.2:g.77032722_77032723del	GRCh38
NC_000015.9:g.77325063_77325064del , CM000677.1:g.77325063_77325064del	GRCh37
NC_000015.8:g.75112118_75112119del	NCBI36
NG_007526.1:g.42599_42600del , LRG_172:g.42599_42600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1865_1866del
ENST00000697623.1:n.2258-140_2258-139del
ENST00000558012.6:c.839-140_839-139del MANE Select	ENSP00000452746.1:n.839-140_839-139del
ENST00000379595.7:c.839-140_839-139del	ENSP00000368914.3:n.839-140_839-139del
ENST00000557995.1:n.503-140_503-139del
ENST00000558012.5:c.839-140_839-139del	ENSP00000452746.1:n.839-140_839-139del
ENST00000558870.1:c.78+328_78+329del
ENST00000559295.5:c.872+294_872+295del	ENSP00000452743.1:n.872+294_872+295del
ENST00000559785.5:c.1068-140_1068-139del	ENSP00000452986.1:n.1068-140_1068-139del
ENST00000560223.5:c.*941-140_*941-139del	ENSP00000454118.1:n.*941-140_*941-139del
ENST00000560377.5:n.1407_1408del
NM_003978.3:c.839-140_839-139del , LRG_172t1:c.839-140_839-139del	NP_003969.2:n.839-140_839-139del
XM_006720737.2:c.473-140_473-139del	XP_006720800.1:n.473-140_473-139del
XM_011522163.1:c.896-140_896-139del	XP_011520465.1:n.896-140_896-139del
XM_011522164.1:c.794-140_794-139del	XP_011520466.1:n.794-140_794-139del
XM_011522165.1:c.692-140_692-139del	XP_011520467.1:n.692-140_692-139del
XM_011522166.1:c.930-140_930-139del	XP_011520468.1:n.930-140_930-139del
XM_011522167.1:c.895+328_895+329del	XP_011520469.1:n.895+328_895+329del
XM_011522168.1:c.896-140_896-139del	XP_011520470.1:n.896-140_896-139del
XM_011522169.1:c.798+1444_798+1445del	XP_011520471.1:n.798+1444_798+1445del
XM_011522170.1:c.372-2786_372-2785del	XP_011520472.1:n.372-2786_372-2785del
XM_011522171.1:c.312-2786_312-2785del	XP_011520473.1:n.312-2786_312-2785del
XM_011522172.1:c.312-2786_312-2785del	XP_011520474.1:n.312-2786_312-2785del
XM_011522173.1:c.312-2786_312-2785del	XP_011520475.1:n.312-2786_312-2785del
XR_931936.1:n.1380-140_1380-139del
XR_931937.1:n.1323-140_1323-139del
XR_931938.1:n.1345+328_1345+329del
XR_931939.1:n.1248+1444_1248+1445del
XR_931940.1:n.1070-2786_1070-2785del
NM_001321135.1:c.872+294_872+295del	NP_001308064.1:n.872+294_872+295del
NM_001321136.1:c.812-140_812-139del	NP_001308065.1:n.812-140_812-139del
NM_001321137.1:c.1034-140_1034-139del	NP_001308066.1:n.1034-140_1034-139del
NM_003978.4:c.839-140_839-139del	NP_003969.2:n.839-140_839-139del
NR_135552.1:n.1150+1444_1150+1445del
XM_006720737.3:c.473-140_473-139del	XP_006720800.1:n.473-140_473-139del
XM_011522163.2:c.896-140_896-139del	XP_011520465.1:n.896-140_896-139del
XM_011522165.2:c.692-140_692-139del	XP_011520467.1:n.692-140_692-139del
XM_011522166.2:c.930-140_930-139del	XP_011520468.1:n.930-140_930-139del
XM_011522167.2:c.895+328_895+329del	XP_011520469.1:n.895+328_895+329del
XM_011522168.3:c.896-140_896-139del	XP_011520470.1:n.896-140_896-139del
XM_011522169.2:c.798+1444_798+1445del	XP_011520471.1:n.798+1444_798+1445del
XR_931936.2:n.1378-140_1378-139del
XR_931937.2:n.1321-140_1321-139del
XR_931938.2:n.1343+328_1343+329del
XR_931939.2:n.1246+1444_1246+1445del
NM_001321135.2:c.872+294_872+295del	NP_001308064.1:n.872+294_872+295del
NM_001321136.2:c.812-140_812-139del	NP_001308065.1:n.812-140_812-139del
NM_003978.5:c.839-140_839-139del MANE Select	NP_003969.2:n.839-140_839-139del
NR_135552.2:n.1109+1444_1109+1445del