Canonical Allele Identifier: CA16609679
Gene: INPP5K HGNC NCBI

Linked Data

ClinVar Variation Id: 417782
ClinVar RCV Id: RCV000477707
dbSNP Id: rs1060505040

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496099_1496100del , CM000679.2:g.1496099_1496100del GRCh38
NC_000017.10:g.1399393_1399394del , CM000679.1:g.1399393_1399394del GRCh37
NC_000017.9:g.1346143_1346144del NCBI36
NG_029891.1:g.25790_25791del
NG_047063.1:g.1609_1610del

Transcript Alleles

HGVS Amino-acid change
ENST00000421807.7:c.1251_1252del MANE Select ENSP00000413937.2:p.Asn417LysfsTer26
ENST00000320345.10:c.1023_1024del ENSP00000318476.6:p.Asn341LysfsTer26
ENST00000350761.9:c.*842_*843del ENSP00000254712.5:n.*842_*843del
ENST00000406424.8:c.1023_1024del ENSP00000385177.4:p.Asn341LysfsTer26
ENST00000421807.6:c.1251_1252del ENSP00000413937.2:p.Asn417LysfsTer26
ENST00000487039.1:n.363_364del
NM_001135642.1:c.1023_1024del NP_001129114.1:p.Asn341LysfsTer26
NM_016532.3:c.1251_1252del NP_057616.2:p.Asn417LysfsTer26
NM_130766.2:c.1023_1024del NP_570122.1:p.Asn341LysfsTer26
XM_005256683.2:c.1023_1024del XP_005256740.1:p.Asn341LysfsTer26
XM_005256685.1:c.975_976del XP_005256742.1:p.Asn325LysfsTer26
XM_005256686.1:c.975_976del XP_005256743.1:p.Asn325LysfsTer26
XM_011523934.1:c.1023_1024del XP_011522236.1:p.Asn341LysfsTer26
XM_011523935.1:c.1023_1024del XP_011522237.1:p.Asn341LysfsTer26
XM_011523936.1:c.846_847del XP_011522238.1:p.Asn282LysfsTer26
XM_005256686.2:c.975_976del XP_005256743.1:p.Asn325LysfsTer26
XM_011523936.2:c.846_847del XP_011522238.1:p.Asn282LysfsTer26
XM_017024756.1:c.1023_1024del XP_016880245.1:p.Asn341LysfsTer26
XM_017024757.2:c.975_976del XP_016880246.1:p.Asn325LysfsTer26
XM_017024758.2:c.846_847del XP_016880247.1:p.Asn282LysfsTer26
XM_017024759.1:c.846_847del XP_016880248.1:p.Asn282LysfsTer26
XM_024450802.1:c.1023_1024del XP_024306570.1:p.Asn341LysfsTer26
NM_016532.4:c.1251_1252del MANE Select NP_057616.2:p.Asn417LysfsTer26
NM_001135642.2:c.1023_1024del NP_001129114.1:p.Asn341LysfsTer26
NM_130766.3:c.1023_1024del NP_570122.1:p.Asn341LysfsTer26