Canonical Allele Identifier: CA2633043348

Gene: PHKB

Linked Data

• gnomAD v4: 16-47503087-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47503089del , CM000678.2:g.47503089del	GRCh38
NC_000016.9:g.47537000del , CM000678.1:g.47537000del	GRCh37
NC_000016.8:g.46094501del	NCBI36
NG_016598.1:g.46791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.383del	ENSP00000512887.1:p.Lys128ArgfsTer?
ENST00000699276.1:c.383del	ENSP00000514257.1:p.Lys128ArgfsTer?
ENST00000323584.10:c.404del MANE Select	ENSP00000313504.5:p.Lys135ArgfsTer?
ENST00000299167.12:c.404del	ENSP00000299167.8:p.Lys135ArgfsTer?
ENST00000323584.9:c.404del	ENSP00000313504.5:p.Lys135ArgfsTer?
ENST00000563376.5:c.383del	ENSP00000457905.1:p.Lys128ArgfsTer?
ENST00000565424.2:n.96+41663del
ENST00000566037.6:c.383del	ENSP00000455664.2:p.Lys128ArgfsTer?
ENST00000566044.5:c.383del	ENSP00000456729.1:p.Lys128ArgfsTer?
ENST00000567402.5:n.419del
ENST00000570047.2:c.238del
NM_000293.2:c.404del	NP_000284.1:p.Lys135ArgfsTer?
NM_001031835.2:c.383del	NP_001027005.1:p.Lys128ArgfsTer?
XM_005255983.3:c.404del	XP_005256040.1:p.Lys135ArgfsTer?
XM_005255984.3:c.383del	XP_005256041.1:p.Lys128ArgfsTer?
XM_011523106.1:c.404del	XP_011521408.1:p.Lys135ArgfsTer?
NM_001363837.1:c.404del	NP_001350766.1:p.Lys135ArgfsTer?
XM_005255983.4:c.404del	XP_005256040.1:p.Lys135ArgfsTer?
XM_005255984.4:c.383del	XP_005256041.1:p.Lys128ArgfsTer?
XM_017023283.1:c.-1102del	XP_016878772.1:n.-1102del
XM_017023284.1:c.-1102del	XP_016878773.1:n.-1102del
XR_001751913.1:n.419del
NM_000293.3:c.404del MANE Select	NP_000284.1:p.Lys135ArgfsTer?
NM_001031835.3:c.383del	NP_001027005.1:p.Lys128ArgfsTer?