Canonical Allele Identifier: CA2566351765
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696370_47696371insC , CM000678.2:g.47696370_47696371insC GRCh38
NC_000016.9:g.47730281_47730282insC , CM000678.1:g.47730281_47730282insC GRCh37
NC_000016.8:g.46287782_46287783insC NCBI36
NG_016598.1:g.240072_240073insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1470-11_*1470-10insC ENSP00000512887.1:n.*1470-11_*1470-10insC
ENST00000699276.1:c.*524-11_*524-10insC ENSP00000514257.1:n.*524-11_*524-10insC
ENST00000323584.10:c.2896-11_2896-10insC MANE Select ENSP00000313504.5:n.2896-11_2896-10insC
ENST00000299167.12:c.2896-11_2896-10insC ENSP00000299167.8:n.2896-11_2896-10insC
ENST00000323584.9:c.2896-11_2896-10insC ENSP00000313504.5:n.2896-11_2896-10insC
ENST00000566044.5:c.2875-11_2875-10insC ENSP00000456729.1:n.2875-11_2875-10insC
ENST00000566319.2:n.1712-11_1712-10insC
NM_000293.2:c.2896-11_2896-10insC NP_000284.1:n.2896-11_2896-10insC
NM_001031835.2:c.2875-11_2875-10insC NP_001027005.1:n.2875-11_2875-10insC
XM_005255983.3:c.2896-11_2896-10insC XP_005256040.1:n.2896-11_2896-10insC
XM_005255984.3:c.2875-11_2875-10insC XP_005256041.1:n.2875-11_2875-10insC
XM_011523107.1:c.1474-11_1474-10insC XP_011521409.1:n.1474-11_1474-10insC
NM_001363837.1:c.2896-11_2896-10insC NP_001350766.1:n.2896-11_2896-10insC
XM_005255983.4:c.2896-11_2896-10insC XP_005256040.1:n.2896-11_2896-10insC
XM_005255984.4:c.2875-11_2875-10insC XP_005256041.1:n.2875-11_2875-10insC
XM_017023282.1:c.1783-11_1783-10insC XP_016878771.1:n.1783-11_1783-10insC
XM_017023283.1:c.1474-11_1474-10insC XP_016878772.1:n.1474-11_1474-10insC
XM_017023284.1:c.1474-11_1474-10insC XP_016878773.1:n.1474-11_1474-10insC
XR_001751913.1:n.2820-11_2820-10insC
NM_000293.3:c.2896-11_2896-10insC MANE Select NP_000284.1:n.2896-11_2896-10insC
NM_001031835.3:c.2875-11_2875-10insC NP_001027005.1:n.2875-11_2875-10insC