Canonical Allele Identifier: CA2629651914

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032725-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032727_77032728dup , CM000677.2:g.77032727_77032728dup	GRCh38
NC_000015.9:g.77325068_77325069dup , CM000677.1:g.77325068_77325069dup	GRCh37
NC_000015.8:g.75112123_75112124dup	NCBI36
NG_007526.1:g.42604_42605dup , LRG_172:g.42604_42605dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1870_1871dup
ENST00000697623.1:n.2258-135_2258-134dup
ENST00000558012.6:c.839-135_839-134dup MANE Select	ENSP00000452746.1:n.839-135_839-134dup
ENST00000379595.7:c.839-135_839-134dup	ENSP00000368914.3:n.839-135_839-134dup
ENST00000557995.1:n.503-135_503-134dup
ENST00000558012.5:c.839-135_839-134dup	ENSP00000452746.1:n.839-135_839-134dup
ENST00000558870.1:c.78+333_78+334dup
ENST00000559295.5:c.872+299_872+300dup	ENSP00000452743.1:n.872+299_872+300dup
ENST00000559785.5:c.1068-135_1068-134dup	ENSP00000452986.1:n.1068-135_1068-134dup
ENST00000560223.5:c.*941-135_*941-134dup	ENSP00000454118.1:n.*941-135_*941-134dup
ENST00000560377.5:n.1412_1413dup
NM_003978.3:c.839-135_839-134dup , LRG_172t1:c.839-135_839-134dup	NP_003969.2:n.839-135_839-134dup
XM_006720737.2:c.473-135_473-134dup	XP_006720800.1:n.473-135_473-134dup
XM_011522163.1:c.896-135_896-134dup	XP_011520465.1:n.896-135_896-134dup
XM_011522164.1:c.794-135_794-134dup	XP_011520466.1:n.794-135_794-134dup
XM_011522165.1:c.692-135_692-134dup	XP_011520467.1:n.692-135_692-134dup
XM_011522166.1:c.930-135_930-134dup	XP_011520468.1:n.930-135_930-134dup
XM_011522167.1:c.895+333_895+334dup	XP_011520469.1:n.895+333_895+334dup
XM_011522168.1:c.896-135_896-134dup	XP_011520470.1:n.896-135_896-134dup
XM_011522169.1:c.798+1449_798+1450dup	XP_011520471.1:n.798+1449_798+1450dup
XM_011522170.1:c.372-2781_372-2780dup	XP_011520472.1:n.372-2781_372-2780dup
XM_011522171.1:c.312-2781_312-2780dup	XP_011520473.1:n.312-2781_312-2780dup
XM_011522172.1:c.312-2781_312-2780dup	XP_011520474.1:n.312-2781_312-2780dup
XM_011522173.1:c.312-2781_312-2780dup	XP_011520475.1:n.312-2781_312-2780dup
XR_931936.1:n.1380-135_1380-134dup
XR_931937.1:n.1323-135_1323-134dup
XR_931938.1:n.1345+333_1345+334dup
XR_931939.1:n.1248+1449_1248+1450dup
XR_931940.1:n.1070-2781_1070-2780dup
NM_001321135.1:c.872+299_872+300dup	NP_001308064.1:n.872+299_872+300dup
NM_001321136.1:c.812-135_812-134dup	NP_001308065.1:n.812-135_812-134dup
NM_001321137.1:c.1034-135_1034-134dup	NP_001308066.1:n.1034-135_1034-134dup
NM_003978.4:c.839-135_839-134dup	NP_003969.2:n.839-135_839-134dup
NR_135552.1:n.1150+1449_1150+1450dup
XM_006720737.3:c.473-135_473-134dup	XP_006720800.1:n.473-135_473-134dup
XM_011522163.2:c.896-135_896-134dup	XP_011520465.1:n.896-135_896-134dup
XM_011522165.2:c.692-135_692-134dup	XP_011520467.1:n.692-135_692-134dup
XM_011522166.2:c.930-135_930-134dup	XP_011520468.1:n.930-135_930-134dup
XM_011522167.2:c.895+333_895+334dup	XP_011520469.1:n.895+333_895+334dup
XM_011522168.3:c.896-135_896-134dup	XP_011520470.1:n.896-135_896-134dup
XM_011522169.2:c.798+1449_798+1450dup	XP_011520471.1:n.798+1449_798+1450dup
XR_931936.2:n.1378-135_1378-134dup
XR_931937.2:n.1321-135_1321-134dup
XR_931938.2:n.1343+333_1343+334dup
XR_931939.2:n.1246+1449_1246+1450dup
NM_001321135.2:c.872+299_872+300dup	NP_001308064.1:n.872+299_872+300dup
NM_001321136.2:c.812-135_812-134dup	NP_001308065.1:n.812-135_812-134dup
NM_003978.5:c.839-135_839-134dup MANE Select	NP_003969.2:n.839-135_839-134dup
NR_135552.2:n.1109+1449_1109+1450dup