Canonical Allele Identifier: CA2633049960

Gene: PHKB

Linked Data

• gnomAD v4: 16-47696460-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696461del , CM000678.2:g.47696461del	GRCh38
NC_000016.9:g.47730372del , CM000678.1:g.47730372del	GRCh37
NC_000016.8:g.46287873del	NCBI36
NG_016598.1:g.240163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1550del	ENSP00000512887.1:n.*1550del
ENST00000699276.1:c.*604del	ENSP00000514257.1:n.*604del
ENST00000323584.10:c.2976del MANE Select	ENSP00000313504.5:p.Gln992HisfsTer9
ENST00000299167.12:c.2976del	ENSP00000299167.8:p.Gln992HisfsTer9
ENST00000323584.9:c.2976del	ENSP00000313504.5:p.Gln992HisfsTer9
ENST00000566044.5:c.2955del	ENSP00000456729.1:p.Gln985HisfsTer9
ENST00000566319.2:n.1792del
NM_000293.2:c.2976del	NP_000284.1:p.Gln992HisfsTer9
NM_001031835.2:c.2955del	NP_001027005.1:p.Gln985HisfsTer9
XM_005255983.3:c.2976del	XP_005256040.1:p.Gln992HisfsTer9
XM_005255984.3:c.2955del	XP_005256041.1:p.Gln985HisfsTer9
XM_011523107.1:c.1554del	XP_011521409.1:p.Gln518HisfsTer9
NM_001363837.1:c.2976del	NP_001350766.1:p.Gln992HisfsTer9
XM_005255983.4:c.2976del	XP_005256040.1:p.Gln992HisfsTer9
XM_005255984.4:c.2955del	XP_005256041.1:p.Gln985HisfsTer9
XM_017023282.1:c.1863del	XP_016878771.1:p.Gln621HisfsTer9
XM_017023283.1:c.1554del	XP_016878772.1:p.Gln518HisfsTer9
XM_017023284.1:c.1554del	XP_016878773.1:p.Gln518HisfsTer9
XR_001751913.1:n.2900del
NM_000293.3:c.2976del MANE Select	NP_000284.1:p.Gln992HisfsTer9
NM_001031835.3:c.2955del	NP_001027005.1:p.Gln985HisfsTer9