Canonical Allele Identifier: CA2499223533

Gene: PHKB

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47666020del , CM000678.2:g.47666020del	GRCh38
NC_000016.9:g.47699931del , CM000678.1:g.47699931del	GRCh37
NC_000016.8:g.46257432del	NCBI36
NG_016598.1:g.209722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*989del	ENSP00000512887.1:n.*989del
ENST00000699276.1:c.*43del	ENSP00000514257.1:n.*43del
ENST00000323584.10:c.2427+1045del MANE Select	ENSP00000313504.5:n.2427+1045del
ENST00000299167.12:c.2415del	ENSP00000299167.8:p.Gln806ArgfsTer5
ENST00000323584.9:c.2427+1045del	ENSP00000313504.5:n.2427+1045del
ENST00000566044.5:c.2394del	ENSP00000456729.1:p.Gln799ArgfsTer5
ENST00000566275.2:c.336del	ENSP00000459287.1:p.Gln113ArgfsTer5
ENST00000566319.2:n.1231del
NM_000293.2:c.2427+1045del	NP_000284.1:n.2427+1045del
NM_001031835.2:c.2394del	NP_001027005.1:p.Gln799ArgfsTer5
XM_005255983.3:c.2415del	XP_005256040.1:p.Gln806ArgfsTer5
XM_005255984.3:c.2394del	XP_005256041.1:p.Gln799ArgfsTer5
XM_011523106.1:c.2336+2286del	XP_011521408.1:n.2336+2286del
XM_011523107.1:c.993del	XP_011521409.1:p.Gln332ArgfsTer5
NM_001363837.1:c.2415del	NP_001350766.1:p.Gln806ArgfsTer5
XM_005255983.4:c.2415del	XP_005256040.1:p.Gln806ArgfsTer5
XM_005255984.4:c.2394del	XP_005256041.1:p.Gln799ArgfsTer5
XM_017023282.1:c.1302del	XP_016878771.1:p.Gln435ArgfsTer5
XM_017023283.1:c.993del	XP_016878772.1:p.Gln332ArgfsTer5
XM_017023284.1:c.993del	XP_016878773.1:p.Gln332ArgfsTer5
XR_001751913.1:n.2351+2286del
NM_000293.3:c.2427+1045del MANE Select	NP_000284.1:n.2427+1045del
NM_001031835.3:c.2394del	NP_001027005.1:p.Gln799ArgfsTer5