Canonical Allele Identifier: CA2635219262
Gene: INPP5K HGNC NCBI

Linked Data

gnomAD v4: 17-1496176-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1496176T>C , CM000679.2:g.1496176T>C GRCh38
NC_000017.10:g.1399470T>C , CM000679.1:g.1399470T>C GRCh37
NC_000017.9:g.1346220T>C NCBI36
NG_029891.1:g.25713A>G
NG_047063.1:g.1532A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000421807.7:c.1186-12A>G MANE Select ENSP00000413937.2:n.1186-12A>G
ENST00000320345.10:c.958-12A>G ENSP00000318476.6:n.958-12A>G
ENST00000350761.9:c.*777-12A>G ENSP00000254712.5:n.*777-12A>G
ENST00000406424.8:c.958-12A>G ENSP00000385177.4:n.958-12A>G
ENST00000421807.6:c.1186-12A>G ENSP00000413937.2:n.1186-12A>G
ENST00000487039.1:n.286A>G
ENST00000574561.1:c.454-12A>G ENSP00000461105.1:n.454-12A>G
NM_001135642.1:c.958-12A>G NP_001129114.1:n.958-12A>G
NM_016532.3:c.1186-12A>G NP_057616.2:n.1186-12A>G
NM_130766.2:c.958-12A>G NP_570122.1:n.958-12A>G
XM_005256683.2:c.958-12A>G XP_005256740.1:n.958-12A>G
XM_005256685.1:c.910-12A>G XP_005256742.1:n.910-12A>G
XM_005256686.1:c.910-12A>G XP_005256743.1:n.910-12A>G
XM_011523934.1:c.958-12A>G XP_011522236.1:n.958-12A>G
XM_011523935.1:c.958-12A>G XP_011522237.1:n.958-12A>G
XM_011523936.1:c.781-12A>G XP_011522238.1:n.781-12A>G
XM_005256686.2:c.910-12A>G XP_005256743.1:n.910-12A>G
XM_011523936.2:c.781-12A>G XP_011522238.1:n.781-12A>G
XM_017024756.1:c.958-12A>G XP_016880245.1:n.958-12A>G
XM_017024757.2:c.910-12A>G XP_016880246.1:n.910-12A>G
XM_017024758.2:c.781-12A>G XP_016880247.1:n.781-12A>G
XM_017024759.1:c.781-12A>G XP_016880248.1:n.781-12A>G
XM_024450802.1:c.958-12A>G XP_024306570.1:n.958-12A>G
NM_016532.4:c.1186-12A>G MANE Select NP_057616.2:n.1186-12A>G
NM_001135642.2:c.958-12A>G NP_001129114.1:n.958-12A>G
NM_130766.3:c.958-12A>G NP_570122.1:n.958-12A>G