Canonical Allele Identifier: CA2576110899
Gene: INPP5K HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1495996_1496003del , CM000679.2:g.1495996_1496003del GRCh38
NC_000017.10:g.1399290_1399297del , CM000679.1:g.1399290_1399297del GRCh37
NC_000017.9:g.1346040_1346047del NCBI36
NG_029891.1:g.25889_25896del
NG_047063.1:g.1708_1715del

Transcript Alleles

HGVS Amino-acid change
ENST00000421807.7:c.1290+60_1290+67del MANE Select ENSP00000413937.2:n.1290+60_1290+67del
ENST00000320345.10:c.1062+60_1062+67del ENSP00000318476.6:n.1062+60_1062+67del
ENST00000350761.9:c.*881+60_*881+67del ENSP00000254712.5:n.*881+60_*881+67del
ENST00000406424.8:c.1062+60_1062+67del ENSP00000385177.4:n.1062+60_1062+67del
ENST00000421807.6:c.1290+60_1290+67del ENSP00000413937.2:n.1290+60_1290+67del
ENST00000487039.1:n.402+60_402+67del
NM_001135642.1:c.1062+60_1062+67del NP_001129114.1:n.1062+60_1062+67del
NM_016532.3:c.1290+60_1290+67del NP_057616.2:n.1290+60_1290+67del
NM_130766.2:c.1062+60_1062+67del NP_570122.1:n.1062+60_1062+67del
XM_005256683.2:c.1062+60_1062+67del XP_005256740.1:n.1062+60_1062+67del
XM_005256685.1:c.1014+60_1014+67del XP_005256742.1:n.1014+60_1014+67del
XM_005256686.1:c.1014+60_1014+67del XP_005256743.1:n.1014+60_1014+67del
XM_011523934.1:c.1062+60_1062+67del XP_011522236.1:n.1062+60_1062+67del
XM_011523935.1:c.1062+60_1062+67del XP_011522237.1:n.1062+60_1062+67del
XM_011523936.1:c.885+60_885+67del XP_011522238.1:n.885+60_885+67del
XM_005256686.2:c.1014+60_1014+67del XP_005256743.1:n.1014+60_1014+67del
XM_011523936.2:c.885+60_885+67del XP_011522238.1:n.885+60_885+67del
XM_017024756.1:c.1062+60_1062+67del XP_016880245.1:n.1062+60_1062+67del
XM_017024757.2:c.1014+60_1014+67del XP_016880246.1:n.1014+60_1014+67del
XM_017024758.2:c.885+60_885+67del XP_016880247.1:n.885+60_885+67del
XM_017024759.1:c.885+60_885+67del XP_016880248.1:n.885+60_885+67del
XM_024450802.1:c.1062+60_1062+67del XP_024306570.1:n.1062+60_1062+67del
NM_016532.4:c.1290+60_1290+67del MANE Select NP_057616.2:n.1290+60_1290+67del
NM_001135642.2:c.1062+60_1062+67del NP_001129114.1:n.1062+60_1062+67del
NM_130766.3:c.1062+60_1062+67del NP_570122.1:n.1062+60_1062+67del