Canonical Allele Identifier: CA2576110941
Gene: INPP5K HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496341_1496343del , CM000679.2:g.1496341_1496343del GRCh38
NC_000017.10:g.1399635_1399637del , CM000679.1:g.1399635_1399637del GRCh37
NC_000017.9:g.1346385_1346387del NCBI36
NG_029891.1:g.25548_25550del
NG_047063.1:g.1367_1369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000421807.7:c.1163_1165del MANE Select ENSP00000413937.2:p.Ser388del
ENST00000320345.10:c.935_937del ENSP00000318476.6:p.Ser312del
ENST00000350761.9:c.*754_*756del ENSP00000254712.5:n.*754_*756del
ENST00000406424.8:c.935_937del ENSP00000385177.4:p.Ser312del
ENST00000421807.6:c.1163_1165del ENSP00000413937.2:p.Ser388del
ENST00000487039.1:n.121_123del
ENST00000574561.1:c.431_433del ENSP00000461105.1:p.Ser144del
NM_001135642.1:c.935_937del NP_001129114.1:p.Ser312del
NM_016532.3:c.1163_1165del NP_057616.2:p.Ser388del
NM_130766.2:c.935_937del NP_570122.1:p.Ser312del
XM_005256683.2:c.935_937del XP_005256740.1:p.Ser312del
XM_005256685.1:c.887_889del XP_005256742.1:p.Ser296del
XM_005256686.1:c.887_889del XP_005256743.1:p.Ser296del
XM_011523934.1:c.935_937del XP_011522236.1:p.Ser312del
XM_011523935.1:c.935_937del XP_011522237.1:p.Ser312del
XM_011523936.1:c.758_760del XP_011522238.1:p.Ser253del
XM_005256686.2:c.887_889del XP_005256743.1:p.Ser296del
XM_011523936.2:c.758_760del XP_011522238.1:p.Ser253del
XM_017024756.1:c.935_937del XP_016880245.1:p.Ser312del
XM_017024757.2:c.887_889del XP_016880246.1:p.Ser296del
XM_017024758.2:c.758_760del XP_016880247.1:p.Ser253del
XM_017024759.1:c.758_760del XP_016880248.1:p.Ser253del
XM_024450802.1:c.935_937del XP_024306570.1:p.Ser312del
NM_016532.4:c.1163_1165del MANE Select NP_057616.2:p.Ser388del
NM_001135642.2:c.935_937del NP_001129114.1:p.Ser312del
NM_130766.3:c.935_937del NP_570122.1:p.Ser312del