Canonical Allele Identifier: CA977061263

Gene: PHKB

Linked Data

• dbSNP Id: rs1974144170
• gnomAD v3: 16-47696200-AAT-A
• gnomAD v4: 16-47696200-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.47696202_47696203del , CM000678.2:g.47696202_47696203del	GRCh38
NC_000016.9:g.47730113_47730114del , CM000678.1:g.47730113_47730114del	GRCh37
NC_000016.8:g.46287614_46287615del	NCBI36
NG_016598.1:g.239904_239905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696809.1:c.*1470-179_*1470-178del	ENSP00000512887.1:n.*1470-179_*1470-178del
ENST00000699276.1:c.*524-179_*524-178del	ENSP00000514257.1:n.*524-179_*524-178del
ENST00000323584.10:c.2896-179_2896-178del MANE Select	ENSP00000313504.5:n.2896-179_2896-178del
ENST00000299167.12:c.2896-179_2896-178del	ENSP00000299167.8:n.2896-179_2896-178del
ENST00000323584.9:c.2896-179_2896-178del	ENSP00000313504.5:n.2896-179_2896-178del
ENST00000566044.5:c.2875-179_2875-178del	ENSP00000456729.1:n.2875-179_2875-178del
ENST00000566319.2:n.1712-179_1712-178del
NM_000293.2:c.2896-179_2896-178del	NP_000284.1:n.2896-179_2896-178del
NM_001031835.2:c.2875-179_2875-178del	NP_001027005.1:n.2875-179_2875-178del
XM_005255983.3:c.2896-179_2896-178del	XP_005256040.1:n.2896-179_2896-178del
XM_005255984.3:c.2875-179_2875-178del	XP_005256041.1:n.2875-179_2875-178del
XM_011523107.1:c.1474-179_1474-178del	XP_011521409.1:n.1474-179_1474-178del
NM_001363837.1:c.2896-179_2896-178del	NP_001350766.1:n.2896-179_2896-178del
XM_005255983.4:c.2896-179_2896-178del	XP_005256040.1:n.2896-179_2896-178del
XM_005255984.4:c.2875-179_2875-178del	XP_005256041.1:n.2875-179_2875-178del
XM_017023282.1:c.1783-179_1783-178del	XP_016878771.1:n.1783-179_1783-178del
XM_017023283.1:c.1474-179_1474-178del	XP_016878772.1:n.1474-179_1474-178del
XM_017023284.1:c.1474-179_1474-178del	XP_016878773.1:n.1474-179_1474-178del
XR_001751913.1:n.2820-179_2820-178del
NM_000293.3:c.2896-179_2896-178del MANE Select	NP_000284.1:n.2896-179_2896-178del
NM_001031835.3:c.2875-179_2875-178del	NP_001027005.1:n.2875-179_2875-178del