Canonical Allele Identifier: CA2188861571

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076451981
• gnomAD v4: 15-77032760-T-TGGGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032768_77032773dup , CM000677.2:g.77032768_77032773dup	GRCh38
NC_000015.9:g.77325109_77325114dup , CM000677.1:g.77325109_77325114dup	GRCh37
NC_000015.8:g.75112164_75112169dup	NCBI36
NG_007526.1:g.42645_42650dup , LRG_172:g.42645_42650dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1911_1916dup
ENST00000697623.1:n.2258-94_2258-89dup
ENST00000558012.6:c.839-94_839-89dup MANE Select	ENSP00000452746.1:n.839-94_839-89dup
ENST00000379595.7:c.839-94_839-89dup	ENSP00000368914.3:n.839-94_839-89dup
ENST00000557995.1:n.503-94_503-89dup
ENST00000558012.5:c.839-94_839-89dup	ENSP00000452746.1:n.839-94_839-89dup
ENST00000558870.1:c.78+374_78+379dup
ENST00000559295.5:c.872+340_872+345dup	ENSP00000452743.1:n.872+340_872+345dup
ENST00000559785.5:c.1068-94_1068-89dup	ENSP00000452986.1:n.1068-94_1068-89dup
ENST00000560223.5:c.*941-94_*941-89dup	ENSP00000454118.1:n.*941-94_*941-89dup
ENST00000560377.5:n.1453_1458dup
NM_003978.3:c.839-94_839-89dup , LRG_172t1:c.839-94_839-89dup	NP_003969.2:n.839-94_839-89dup
XM_006720737.2:c.473-94_473-89dup	XP_006720800.1:n.473-94_473-89dup
XM_011522163.1:c.896-94_896-89dup	XP_011520465.1:n.896-94_896-89dup
XM_011522164.1:c.794-94_794-89dup	XP_011520466.1:n.794-94_794-89dup
XM_011522165.1:c.692-94_692-89dup	XP_011520467.1:n.692-94_692-89dup
XM_011522166.1:c.930-94_930-89dup	XP_011520468.1:n.930-94_930-89dup
XM_011522167.1:c.895+374_895+379dup	XP_011520469.1:n.895+374_895+379dup
XM_011522168.1:c.896-94_896-89dup	XP_011520470.1:n.896-94_896-89dup
XM_011522169.1:c.798+1490_798+1495dup	XP_011520471.1:n.798+1490_798+1495dup
XM_011522170.1:c.372-2740_372-2735dup	XP_011520472.1:n.372-2740_372-2735dup
XM_011522171.1:c.312-2740_312-2735dup	XP_011520473.1:n.312-2740_312-2735dup
XM_011522172.1:c.312-2740_312-2735dup	XP_011520474.1:n.312-2740_312-2735dup
XM_011522173.1:c.312-2740_312-2735dup	XP_011520475.1:n.312-2740_312-2735dup
XR_931936.1:n.1380-94_1380-89dup
XR_931937.1:n.1323-94_1323-89dup
XR_931938.1:n.1345+374_1345+379dup
XR_931939.1:n.1248+1490_1248+1495dup
XR_931940.1:n.1070-2740_1070-2735dup
NM_001321135.1:c.872+340_872+345dup	NP_001308064.1:n.872+340_872+345dup
NM_001321136.1:c.812-94_812-89dup	NP_001308065.1:n.812-94_812-89dup
NM_001321137.1:c.1034-94_1034-89dup	NP_001308066.1:n.1034-94_1034-89dup
NM_003978.4:c.839-94_839-89dup	NP_003969.2:n.839-94_839-89dup
NR_135552.1:n.1150+1490_1150+1495dup
XM_006720737.3:c.473-94_473-89dup	XP_006720800.1:n.473-94_473-89dup
XM_011522163.2:c.896-94_896-89dup	XP_011520465.1:n.896-94_896-89dup
XM_011522165.2:c.692-94_692-89dup	XP_011520467.1:n.692-94_692-89dup
XM_011522166.2:c.930-94_930-89dup	XP_011520468.1:n.930-94_930-89dup
XM_011522167.2:c.895+374_895+379dup	XP_011520469.1:n.895+374_895+379dup
XM_011522168.3:c.896-94_896-89dup	XP_011520470.1:n.896-94_896-89dup
XM_011522169.2:c.798+1490_798+1495dup	XP_011520471.1:n.798+1490_798+1495dup
XR_931936.2:n.1378-94_1378-89dup
XR_931937.2:n.1321-94_1321-89dup
XR_931938.2:n.1343+374_1343+379dup
XR_931939.2:n.1246+1490_1246+1495dup
NM_001321135.2:c.872+340_872+345dup	NP_001308064.1:n.872+340_872+345dup
NM_001321136.2:c.812-94_812-89dup	NP_001308065.1:n.812-94_812-89dup
NM_003978.5:c.839-94_839-89dup MANE Select	NP_003969.2:n.839-94_839-89dup
NR_135552.2:n.1109+1490_1109+1495dup