Canonical Allele Identifier: CA2220492640

Gene: PHKB

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696220_47696224delinsTAGTA , CM000678.2:g.47696220_47696224delinsTAGTA	GRCh38
NC_000016.9:g.47730131_47730135delinsTAGTA , CM000678.1:g.47730131_47730135delinsTAGTA	GRCh37
NC_000016.8:g.46287632_46287636delinsTAGTA	NCBI36
NG_016598.1:g.239922_239926delinsTAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1470-161_*1470-157delinsTAGTA	ENSP00000512887.1:n.*1470-161_*1470-157delinsTAGTA
ENST00000699276.1:c.*524-161_*524-157delinsTAGTA	ENSP00000514257.1:n.*524-161_*524-157delinsTAGTA
ENST00000323584.10:c.2896-161_2896-157delinsTAGTA MANE Select	ENSP00000313504.5:n.2896-161_2896-157delinsTAGTA
ENST00000299167.12:c.2896-161_2896-157delinsTAGTA	ENSP00000299167.8:n.2896-161_2896-157delinsTAGTA
ENST00000323584.9:c.2896-161_2896-157delinsTAGTA	ENSP00000313504.5:n.2896-161_2896-157delinsTAGTA
ENST00000566044.5:c.2875-161_2875-157delinsTAGTA	ENSP00000456729.1:n.2875-161_2875-157delinsTAGTA
ENST00000566319.2:n.1712-161_1712-157delinsTAGTA
NM_000293.2:c.2896-161_2896-157delinsTAGTA	NP_000284.1:n.2896-161_2896-157delinsTAGTA
NM_001031835.2:c.2875-161_2875-157delinsTAGTA	NP_001027005.1:n.2875-161_2875-157delinsTAGTA
XM_005255983.3:c.2896-161_2896-157delinsTAGTA	XP_005256040.1:n.2896-161_2896-157delinsTAGTA
XM_005255984.3:c.2875-161_2875-157delinsTAGTA	XP_005256041.1:n.2875-161_2875-157delinsTAGTA
XM_011523107.1:c.1474-161_1474-157delinsTAGTA	XP_011521409.1:n.1474-161_1474-157delinsTAGTA
NM_001363837.1:c.2896-161_2896-157delinsTAGTA	NP_001350766.1:n.2896-161_2896-157delinsTAGTA
XM_005255983.4:c.2896-161_2896-157delinsTAGTA	XP_005256040.1:n.2896-161_2896-157delinsTAGTA
XM_005255984.4:c.2875-161_2875-157delinsTAGTA	XP_005256041.1:n.2875-161_2875-157delinsTAGTA
XM_017023282.1:c.1783-161_1783-157delinsTAGTA	XP_016878771.1:n.1783-161_1783-157delinsTAGTA
XM_017023283.1:c.1474-161_1474-157delinsTAGTA	XP_016878772.1:n.1474-161_1474-157delinsTAGTA
XM_017023284.1:c.1474-161_1474-157delinsTAGTA	XP_016878773.1:n.1474-161_1474-157delinsTAGTA
XR_001751913.1:n.2820-161_2820-157delinsTAGTA
NM_000293.3:c.2896-161_2896-157delinsTAGTA MANE Select	NP_000284.1:n.2896-161_2896-157delinsTAGTA
NM_001031835.3:c.2875-161_2875-157delinsTAGTA	NP_001027005.1:n.2875-161_2875-157delinsTAGTA