Canonical Allele Identifier: CA280739408
Community Standard Title: NM_000293.3(PHKB):c.2896-236del
Gene: PHKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.47696145del , CM000678.2:g.47696145del GRCh38
NC_000016.9:g.47730056del , CM000678.1:g.47730056del GRCh37
NC_000016.8:g.46287557del NCBI36
NG_016598.1:g.239847del

Transcript Alleles

HGVS Amino-acid Change
NM_000293.3:c.2896-236del MANE Select NP_000284.1:n.2896-236del
ENST00000323584.10:c.2896-236del MANE Select ENSP00000313504.5:n.2896-236del
NM_000293.2:c.2896-236del NP_000284.1:n.2896-236del
NM_001031835.2:c.2875-236del NP_001027005.1:n.2875-236del
NM_001031835.3:c.2875-236del NP_001027005.1:n.2875-236del
NM_001363837.1:c.2896-236del NP_001350766.1:n.2896-236del
ENST00000299167.12:c.2896-236del ENSP00000299167.8:n.2896-236del
ENST00000323584.9:c.2896-236del ENSP00000313504.5:n.2896-236del
ENST00000566044.5:c.2875-236del ENSP00000456729.1:n.2875-236del
ENST00000566319.2:n.1712-236del
ENST00000696809.1:c.*1470-236del ENSP00000512887.1:n.*1470-236del
ENST00000699276.1:c.*524-236del ENSP00000514257.1:n.*524-236del
XM_005255983.3:c.2896-236del XP_005256040.1:n.2896-236del
XM_005255983.4:c.2896-236del XP_005256040.1:n.2896-236del
XM_005255984.3:c.2875-236del XP_005256041.1:n.2875-236del
XM_005255984.4:c.2875-236del XP_005256041.1:n.2875-236del
XM_011523107.1:c.1474-236del XP_011521409.1:n.1474-236del
XM_017023282.1:c.1783-236del XP_016878771.1:n.1783-236del
XM_017023283.1:c.1474-236del XP_016878772.1:n.1474-236del
XM_017023284.1:c.1474-236del XP_016878773.1:n.1474-236del
XR_001751913.1:n.2820-236del