Canonical Allele Identifier: CA2629651726

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032646-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032647del , CM000677.2:g.77032647del	GRCh38
NC_000015.9:g.77324988del , CM000677.1:g.77324988del	GRCh37
NC_000015.8:g.75112043del	NCBI36
NG_007526.1:g.42524del , LRG_172:g.42524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1790del
ENST00000697623.1:n.2258-215del
ENST00000558012.6:c.839-215del MANE Select	ENSP00000452746.1:n.839-215del
ENST00000379595.7:c.839-215del	ENSP00000368914.3:n.839-215del
ENST00000557995.1:n.503-215del
ENST00000558012.5:c.839-215del	ENSP00000452746.1:n.839-215del
ENST00000558870.1:c.78+253del
ENST00000559295.5:c.872+219del	ENSP00000452743.1:n.872+219del
ENST00000559785.5:c.1068-215del	ENSP00000452986.1:n.1068-215del
ENST00000560223.5:c.*941-215del	ENSP00000454118.1:n.*941-215del
ENST00000560377.5:n.1332del
NM_003978.3:c.839-215del , LRG_172t1:c.839-215del	NP_003969.2:n.839-215del
XM_006720737.2:c.473-215del	XP_006720800.1:n.473-215del
XM_011522163.1:c.896-215del	XP_011520465.1:n.896-215del
XM_011522164.1:c.794-215del	XP_011520466.1:n.794-215del
XM_011522165.1:c.692-215del	XP_011520467.1:n.692-215del
XM_011522166.1:c.930-215del	XP_011520468.1:n.930-215del
XM_011522167.1:c.895+253del	XP_011520469.1:n.895+253del
XM_011522168.1:c.896-215del	XP_011520470.1:n.896-215del
XM_011522169.1:c.798+1369del	XP_011520471.1:n.798+1369del
XM_011522170.1:c.372-2861del	XP_011520472.1:n.372-2861del
XM_011522171.1:c.312-2861del	XP_011520473.1:n.312-2861del
XM_011522172.1:c.312-2861del	XP_011520474.1:n.312-2861del
XM_011522173.1:c.312-2861del	XP_011520475.1:n.312-2861del
XR_931936.1:n.1380-215del
XR_931937.1:n.1323-215del
XR_931938.1:n.1345+253del
XR_931939.1:n.1248+1369del
XR_931940.1:n.1070-2861del
NM_001321135.1:c.872+219del	NP_001308064.1:n.872+219del
NM_001321136.1:c.812-215del	NP_001308065.1:n.812-215del
NM_001321137.1:c.1034-215del	NP_001308066.1:n.1034-215del
NM_003978.4:c.839-215del	NP_003969.2:n.839-215del
NR_135552.1:n.1150+1369del
XM_006720737.3:c.473-215del	XP_006720800.1:n.473-215del
XM_011522163.2:c.896-215del	XP_011520465.1:n.896-215del
XM_011522165.2:c.692-215del	XP_011520467.1:n.692-215del
XM_011522166.2:c.930-215del	XP_011520468.1:n.930-215del
XM_011522167.2:c.895+253del	XP_011520469.1:n.895+253del
XM_011522168.3:c.896-215del	XP_011520470.1:n.896-215del
XM_011522169.2:c.798+1369del	XP_011520471.1:n.798+1369del
XR_931936.2:n.1378-215del
XR_931937.2:n.1321-215del
XR_931938.2:n.1343+253del
XR_931939.2:n.1246+1369del
NM_001321135.2:c.872+219del	NP_001308064.1:n.872+219del
NM_001321136.2:c.812-215del	NP_001308065.1:n.812-215del
NM_003978.5:c.839-215del MANE Select	NP_003969.2:n.839-215del
NR_135552.2:n.1109+1369del