Canonical Allele Identifier: CA2188861267

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032201_77032204delinsTGAG , CM000677.2:g.77032201_77032204delinsTGAG	GRCh38
NC_000015.9:g.77324542_77324545delinsTGAG , CM000677.1:g.77324542_77324545delinsTGAG	GRCh37
NC_000015.8:g.75111597_75111600delinsTGAG	NCBI36
NG_007526.1:g.42078_42081delinsTGAG , LRG_172:g.42078_42081delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1344_1347delinsTGAG
ENST00000697623.1:n.2064_2067delinsTGAG
ENST00000558012.6:c.742-97_742-94delinsTGAG MANE Select	ENSP00000452746.1:n.742-97_742-94delinsTGAG
ENST00000379595.7:c.742-97_742-94delinsTGAG	ENSP00000368914.3:n.742-97_742-94delinsTGAG
ENST00000557995.1:n.406-97_406-94delinsTGAG
ENST00000558012.5:c.742-97_742-94delinsTGAG	ENSP00000452746.1:n.742-97_742-94delinsTGAG
ENST00000559295.5:c.742-97_742-94delinsTGAG	ENSP00000452743.1:n.742-97_742-94delinsTGAG
ENST00000559785.5:c.937-97_937-94delinsTGAG	ENSP00000452986.1:n.937-97_937-94delinsTGAG
ENST00000559856.1:c.661-97_661-94delinsTGAG	ENSP00000453382.1:n.661-97_661-94delinsTGAG
ENST00000560223.5:c.*844-97_*844-94delinsTGAG	ENSP00000454118.1:n.*844-97_*844-94delinsTGAG
ENST00000560377.5:n.983-97_983-94delinsTGAG
NM_003978.3:c.742-97_742-94delinsTGAG , LRG_172t1:c.742-97_742-94delinsTGAG	NP_003969.2:n.742-97_742-94delinsTGAG
XM_006720737.2:c.376-97_376-94delinsTGAG	XP_006720800.1:n.376-97_376-94delinsTGAG
XM_011522163.1:c.799-97_799-94delinsTGAG	XP_011520465.1:n.799-97_799-94delinsTGAG
XM_011522164.1:c.697-97_697-94delinsTGAG	XP_011520466.1:n.697-97_697-94delinsTGAG
XM_011522165.1:c.595-97_595-94delinsTGAG	XP_011520467.1:n.595-97_595-94delinsTGAG
XM_011522166.1:c.799-97_799-94delinsTGAG	XP_011520468.1:n.799-97_799-94delinsTGAG
XM_011522167.1:c.799-97_799-94delinsTGAG	XP_011520469.1:n.799-97_799-94delinsTGAG
XM_011522168.1:c.799-97_799-94delinsTGAG	XP_011520470.1:n.799-97_799-94delinsTGAG
XM_011522169.1:c.798+923_798+926delinsTGAG	XP_011520471.1:n.798+923_798+926delinsTGAG
XM_011522170.1:c.371+2627_371+2630delinsTGAG	XP_011520472.1:n.371+2627_371+2630delinsTGAG
XM_011522171.1:c.311+2627_311+2630delinsTGAG	XP_011520473.1:n.311+2627_311+2630delinsTGAG
XM_011522172.1:c.311+2627_311+2630delinsTGAG	XP_011520474.1:n.311+2627_311+2630delinsTGAG
XM_011522173.1:c.311+2627_311+2630delinsTGAG	XP_011520475.1:n.311+2627_311+2630delinsTGAG
XR_931936.1:n.1249-97_1249-94delinsTGAG
XR_931937.1:n.1192-97_1192-94delinsTGAG
XR_931938.1:n.1249-97_1249-94delinsTGAG
XR_931939.1:n.1248+923_1248+926delinsTGAG
XR_931940.1:n.1069+2627_1069+2630delinsTGAG
NM_001321135.1:c.742-97_742-94delinsTGAG	NP_001308064.1:n.742-97_742-94delinsTGAG
NM_001321136.1:c.715-97_715-94delinsTGAG	NP_001308065.1:n.715-97_715-94delinsTGAG
NM_001321137.1:c.937-97_937-94delinsTGAG	NP_001308066.1:n.937-97_937-94delinsTGAG
NM_003978.4:c.742-97_742-94delinsTGAG	NP_003969.2:n.742-97_742-94delinsTGAG
NR_135552.1:n.1150+923_1150+926delinsTGAG
XM_006720737.3:c.376-97_376-94delinsTGAG	XP_006720800.1:n.376-97_376-94delinsTGAG
XM_011522163.2:c.799-97_799-94delinsTGAG	XP_011520465.1:n.799-97_799-94delinsTGAG
XM_011522165.2:c.595-97_595-94delinsTGAG	XP_011520467.1:n.595-97_595-94delinsTGAG
XM_011522166.2:c.799-97_799-94delinsTGAG	XP_011520468.1:n.799-97_799-94delinsTGAG
XM_011522167.2:c.799-97_799-94delinsTGAG	XP_011520469.1:n.799-97_799-94delinsTGAG
XM_011522168.3:c.799-97_799-94delinsTGAG	XP_011520470.1:n.799-97_799-94delinsTGAG
XM_011522169.2:c.798+923_798+926delinsTGAG	XP_011520471.1:n.798+923_798+926delinsTGAG
XR_931936.2:n.1247-97_1247-94delinsTGAG
XR_931937.2:n.1190-97_1190-94delinsTGAG
XR_931938.2:n.1247-97_1247-94delinsTGAG
XR_931939.2:n.1246+923_1246+926delinsTGAG
NM_001321135.2:c.742-97_742-94delinsTGAG	NP_001308064.1:n.742-97_742-94delinsTGAG
NM_001321136.2:c.715-97_715-94delinsTGAG	NP_001308065.1:n.715-97_715-94delinsTGAG
NM_003978.5:c.742-97_742-94delinsTGAG MANE Select	NP_003969.2:n.742-97_742-94delinsTGAG
NR_135552.2:n.1109+923_1109+926delinsTGAG