Canonical Allele Identifier: CA2242889317

Gene: INPP5K

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496112_1496114delinsCAG , CM000679.2:g.1496112_1496114delinsCAG	GRCh38
NC_000017.10:g.1399406_1399408delinsCAG , CM000679.1:g.1399406_1399408delinsCAG	GRCh37
NC_000017.9:g.1346156_1346158delinsCAG	NCBI36
NG_029891.1:g.25775_25777delinsCTG
NG_047063.1:g.1594_1596delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000421807.7:c.1236_1238delinsCTG MANE Select	ENSP00000413937.2:p.Leu412=
ENST00000320345.10:c.1008_1010delinsCTG	ENSP00000318476.6:p.Leu336=
ENST00000350761.9:c.*827_*829delinsCTG	ENSP00000254712.5:n.*827_*829delinsCTG
ENST00000406424.8:c.1008_1010delinsCTG	ENSP00000385177.4:p.Leu336=
ENST00000421807.6:c.1236_1238delinsCTG	ENSP00000413937.2:p.Leu412=
ENST00000487039.1:n.348_350delinsCTG
NM_001135642.1:c.1008_1010delinsCTG	NP_001129114.1:p.Leu336=
NM_016532.3:c.1236_1238delinsCTG	NP_057616.2:p.Leu412=
NM_130766.2:c.1008_1010delinsCTG	NP_570122.1:p.Leu336=
XM_005256683.2:c.1008_1010delinsCTG	XP_005256740.1:p.Leu336=
XM_005256685.1:c.960_962delinsCTG	XP_005256742.1:p.Leu320=
XM_005256686.1:c.960_962delinsCTG	XP_005256743.1:p.Leu320=
XM_011523934.1:c.1008_1010delinsCTG	XP_011522236.1:p.Leu336=
XM_011523935.1:c.1008_1010delinsCTG	XP_011522237.1:p.Leu336=
XM_011523936.1:c.831_833delinsCTG	XP_011522238.1:p.Leu277=
XM_005256686.2:c.960_962delinsCTG	XP_005256743.1:p.Leu320=
XM_011523936.2:c.831_833delinsCTG	XP_011522238.1:p.Leu277=
XM_017024756.1:c.1008_1010delinsCTG	XP_016880245.1:p.Leu336=
XM_017024757.2:c.960_962delinsCTG	XP_016880246.1:p.Leu320=
XM_017024758.2:c.831_833delinsCTG	XP_016880247.1:p.Leu277=
XM_017024759.1:c.831_833delinsCTG	XP_016880248.1:p.Leu277=
XM_024450802.1:c.1008_1010delinsCTG	XP_024306570.1:p.Leu336=
NM_016532.4:c.1236_1238delinsCTG MANE Select	NP_057616.2:p.Leu412=
NM_001135642.2:c.1008_1010delinsCTG	NP_001129114.1:p.Leu336=
NM_130766.3:c.1008_1010delinsCTG	NP_570122.1:p.Leu336=