Canonical Allele Identifier: CA624458135

Gene: INPP5K

Linked Data

• dbSNP Id: rs1487281265
• gnomAD v2: 17-1399316-G-GCCCTCACCCTTCCCCTT
• MyVariant Identifiers: chr17:g.1399316_1399317insCCCTCACCCTTCCCCTT (hg19) ; chr17:g.1496022_1496023insCCCTCACCCTTCCCCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1496031_1496047dup , CM000679.2:g.1496031_1496047dup	GRCh38
NC_000017.10:g.1399325_1399341dup , CM000679.1:g.1399325_1399341dup	GRCh37
NC_000017.9:g.1346075_1346091dup	NCBI36
NG_029891.1:g.25850_25866dup
NG_047063.1:g.1669_1685dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000421807.7:c.1290+21_1290+37dup MANE Select	ENSP00000413937.2:n.1290+21_1290+37dup
ENST00000320345.10:c.1062+21_1062+37dup	ENSP00000318476.6:n.1062+21_1062+37dup
ENST00000350761.9:c.*881+21_*881+37dup	ENSP00000254712.5:n.*881+21_*881+37dup
ENST00000406424.8:c.1062+21_1062+37dup	ENSP00000385177.4:n.1062+21_1062+37dup
ENST00000421807.6:c.1290+21_1290+37dup	ENSP00000413937.2:n.1290+21_1290+37dup
ENST00000487039.1:n.402+21_402+37dup
NM_001135642.1:c.1062+21_1062+37dup	NP_001129114.1:n.1062+21_1062+37dup
NM_016532.3:c.1290+21_1290+37dup	NP_057616.2:n.1290+21_1290+37dup
NM_130766.2:c.1062+21_1062+37dup	NP_570122.1:n.1062+21_1062+37dup
XM_005256683.2:c.1062+21_1062+37dup	XP_005256740.1:n.1062+21_1062+37dup
XM_005256685.1:c.1014+21_1014+37dup	XP_005256742.1:n.1014+21_1014+37dup
XM_005256686.1:c.1014+21_1014+37dup	XP_005256743.1:n.1014+21_1014+37dup
XM_011523934.1:c.1062+21_1062+37dup	XP_011522236.1:n.1062+21_1062+37dup
XM_011523935.1:c.1062+21_1062+37dup	XP_011522237.1:n.1062+21_1062+37dup
XM_011523936.1:c.885+21_885+37dup	XP_011522238.1:n.885+21_885+37dup
XM_005256686.2:c.1014+21_1014+37dup	XP_005256743.1:n.1014+21_1014+37dup
XM_011523936.2:c.885+21_885+37dup	XP_011522238.1:n.885+21_885+37dup
XM_017024756.1:c.1062+21_1062+37dup	XP_016880245.1:n.1062+21_1062+37dup
XM_017024757.2:c.1014+21_1014+37dup	XP_016880246.1:n.1014+21_1014+37dup
XM_017024758.2:c.885+21_885+37dup	XP_016880247.1:n.885+21_885+37dup
XM_017024759.1:c.885+21_885+37dup	XP_016880248.1:n.885+21_885+37dup
XM_024450802.1:c.1062+21_1062+37dup	XP_024306570.1:n.1062+21_1062+37dup
NM_016532.4:c.1290+21_1290+37dup MANE Select	NP_057616.2:n.1290+21_1290+37dup
NM_001135642.2:c.1062+21_1062+37dup	NP_001129114.1:n.1062+21_1062+37dup
NM_130766.3:c.1062+21_1062+37dup	NP_570122.1:n.1062+21_1062+37dup