Canonical Allele Identifier: CA2635219255
Gene: INPP5K HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496145_1496146insAA , CM000679.2:g.1496145_1496146insAA GRCh38
NC_000017.10:g.1399439_1399440insAA , CM000679.1:g.1399439_1399440insAA GRCh37
NC_000017.9:g.1346189_1346190insAA NCBI36
NG_029891.1:g.25743_25744insTT
NG_047063.1:g.1562_1563insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000421807.7:c.1204_1205insTT MANE Select ENSP00000413937.2:p.Asn402IlefsTer25
ENST00000320345.10:c.976_977insTT ENSP00000318476.6:p.Asn326IlefsTer25
ENST00000350761.9:c.*795_*796insTT ENSP00000254712.5:n.*795_*796insTT
ENST00000406424.8:c.976_977insTT ENSP00000385177.4:p.Asn326IlefsTer25
ENST00000421807.6:c.1204_1205insTT ENSP00000413937.2:p.Asn402IlefsTer25
ENST00000487039.1:n.316_317insTT
NM_001135642.1:c.976_977insTT NP_001129114.1:p.Asn326IlefsTer25
NM_016532.3:c.1204_1205insTT NP_057616.2:p.Asn402IlefsTer25
NM_130766.2:c.976_977insTT NP_570122.1:p.Asn326IlefsTer25
XM_005256683.2:c.976_977insTT XP_005256740.1:p.Asn326IlefsTer25
XM_005256685.1:c.928_929insTT XP_005256742.1:p.Asn310IlefsTer25
XM_005256686.1:c.928_929insTT XP_005256743.1:p.Asn310IlefsTer25
XM_011523934.1:c.976_977insTT XP_011522236.1:p.Asn326IlefsTer25
XM_011523935.1:c.976_977insTT XP_011522237.1:p.Asn326IlefsTer25
XM_011523936.1:c.799_800insTT XP_011522238.1:p.Asn267IlefsTer25
XM_005256686.2:c.928_929insTT XP_005256743.1:p.Asn310IlefsTer25
XM_011523936.2:c.799_800insTT XP_011522238.1:p.Asn267IlefsTer25
XM_017024756.1:c.976_977insTT XP_016880245.1:p.Asn326IlefsTer25
XM_017024757.2:c.928_929insTT XP_016880246.1:p.Asn310IlefsTer25
XM_017024758.2:c.799_800insTT XP_016880247.1:p.Asn267IlefsTer25
XM_017024759.1:c.799_800insTT XP_016880248.1:p.Asn267IlefsTer25
XM_024450802.1:c.976_977insTT XP_024306570.1:p.Asn326IlefsTer25
NM_016532.4:c.1204_1205insTT MANE Select NP_057616.2:p.Asn402IlefsTer25
NM_001135642.2:c.976_977insTT NP_001129114.1:p.Asn326IlefsTer25
NM_130766.3:c.976_977insTT NP_570122.1:p.Asn326IlefsTer25