Canonical Allele Identifier: CA2220492641
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696231_47696233delinsCAT , CM000678.2:g.47696231_47696233delinsCAT GRCh38
NC_000016.9:g.47730142_47730144delinsCAT , CM000678.1:g.47730142_47730144delinsCAT GRCh37
NC_000016.8:g.46287643_46287645delinsCAT NCBI36
NG_016598.1:g.239933_239935delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1470-150_*1470-148delinsCAT ENSP00000512887.1:n.*1470-150_*1470-148delinsCAT
ENST00000699276.1:c.*524-150_*524-148delinsCAT ENSP00000514257.1:n.*524-150_*524-148delinsCAT
ENST00000323584.10:c.2896-150_2896-148delinsCAT MANE Select ENSP00000313504.5:n.2896-150_2896-148delinsCAT
ENST00000299167.12:c.2896-150_2896-148delinsCAT ENSP00000299167.8:n.2896-150_2896-148delinsCAT
ENST00000323584.9:c.2896-150_2896-148delinsCAT ENSP00000313504.5:n.2896-150_2896-148delinsCAT
ENST00000566044.5:c.2875-150_2875-148delinsCAT ENSP00000456729.1:n.2875-150_2875-148delinsCAT
ENST00000566319.2:n.1712-150_1712-148delinsCAT
NM_000293.2:c.2896-150_2896-148delinsCAT NP_000284.1:n.2896-150_2896-148delinsCAT
NM_001031835.2:c.2875-150_2875-148delinsCAT NP_001027005.1:n.2875-150_2875-148delinsCAT
XM_005255983.3:c.2896-150_2896-148delinsCAT XP_005256040.1:n.2896-150_2896-148delinsCAT
XM_005255984.3:c.2875-150_2875-148delinsCAT XP_005256041.1:n.2875-150_2875-148delinsCAT
XM_011523107.1:c.1474-150_1474-148delinsCAT XP_011521409.1:n.1474-150_1474-148delinsCAT
NM_001363837.1:c.2896-150_2896-148delinsCAT NP_001350766.1:n.2896-150_2896-148delinsCAT
XM_005255983.4:c.2896-150_2896-148delinsCAT XP_005256040.1:n.2896-150_2896-148delinsCAT
XM_005255984.4:c.2875-150_2875-148delinsCAT XP_005256041.1:n.2875-150_2875-148delinsCAT
XM_017023282.1:c.1783-150_1783-148delinsCAT XP_016878771.1:n.1783-150_1783-148delinsCAT
XM_017023283.1:c.1474-150_1474-148delinsCAT XP_016878772.1:n.1474-150_1474-148delinsCAT
XM_017023284.1:c.1474-150_1474-148delinsCAT XP_016878773.1:n.1474-150_1474-148delinsCAT
XR_001751913.1:n.2820-150_2820-148delinsCAT
NM_000293.3:c.2896-150_2896-148delinsCAT MANE Select NP_000284.1:n.2896-150_2896-148delinsCAT
NM_001031835.3:c.2875-150_2875-148delinsCAT NP_001027005.1:n.2875-150_2875-148delinsCAT