Canonical Allele Identifier: CA2220492685
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696365_47696366delinsGA , CM000678.2:g.47696365_47696366delinsGA GRCh38
NC_000016.9:g.47730276_47730277delinsGA , CM000678.1:g.47730276_47730277delinsGA GRCh37
NC_000016.8:g.46287777_46287778delinsGA NCBI36
NG_016598.1:g.240067_240068delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696809.1:c.*1470-16_*1470-15delinsGA ENSP00000512887.1:n.*1470-16_*1470-15delinsGA
ENST00000699276.1:c.*524-16_*524-15delinsGA ENSP00000514257.1:n.*524-16_*524-15delinsGA
ENST00000323584.10:c.2896-16_2896-15delinsGA MANE Select ENSP00000313504.5:n.2896-16_2896-15delinsGA
ENST00000299167.12:c.2896-16_2896-15delinsGA ENSP00000299167.8:n.2896-16_2896-15delinsGA
ENST00000323584.9:c.2896-16_2896-15delinsGA ENSP00000313504.5:n.2896-16_2896-15delinsGA
ENST00000566044.5:c.2875-16_2875-15delinsGA ENSP00000456729.1:n.2875-16_2875-15delinsGA
ENST00000566319.2:n.1712-16_1712-15delinsGA
NM_000293.2:c.2896-16_2896-15delinsGA NP_000284.1:n.2896-16_2896-15delinsGA
NM_001031835.2:c.2875-16_2875-15delinsGA NP_001027005.1:n.2875-16_2875-15delinsGA
XM_005255983.3:c.2896-16_2896-15delinsGA XP_005256040.1:n.2896-16_2896-15delinsGA
XM_005255984.3:c.2875-16_2875-15delinsGA XP_005256041.1:n.2875-16_2875-15delinsGA
XM_011523107.1:c.1474-16_1474-15delinsGA XP_011521409.1:n.1474-16_1474-15delinsGA
NM_001363837.1:c.2896-16_2896-15delinsGA NP_001350766.1:n.2896-16_2896-15delinsGA
XM_005255983.4:c.2896-16_2896-15delinsGA XP_005256040.1:n.2896-16_2896-15delinsGA
XM_005255984.4:c.2875-16_2875-15delinsGA XP_005256041.1:n.2875-16_2875-15delinsGA
XM_017023282.1:c.1783-16_1783-15delinsGA XP_016878771.1:n.1783-16_1783-15delinsGA
XM_017023283.1:c.1474-16_1474-15delinsGA XP_016878772.1:n.1474-16_1474-15delinsGA
XM_017023284.1:c.1474-16_1474-15delinsGA XP_016878773.1:n.1474-16_1474-15delinsGA
XR_001751913.1:n.2820-16_2820-15delinsGA
NM_000293.3:c.2896-16_2896-15delinsGA MANE Select NP_000284.1:n.2896-16_2896-15delinsGA
NM_001031835.3:c.2875-16_2875-15delinsGA NP_001027005.1:n.2875-16_2875-15delinsGA