Canonical Allele Identifier: CA16043713
Gene: PHF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 374402
ClinVar RCV Id: RCV000414958
dbSNP Id: rs1057518729

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54017738del , CM000685.2:g.54017738del GRCh38
NC_000023.10:g.54044171del , CM000685.1:g.54044171del GRCh37
NC_000023.9:g.54060896del NCBI36
NG_021309.1:g.32399del

Transcript Alleles

HGVS Amino-acid change
ENST00000338946.11:c.377del ENSP00000340051.7:p.Leu126ArgfsTer3
ENST00000396282.7:c.377del ENSP00000379578.3:p.Leu126ArgfsTer3
ENST00000686349.1:c.377del ENSP00000510424.1:p.Leu126ArgfsTer3
ENST00000687764.1:c.377del ENSP00000509967.1:p.Leu126ArgfsTer3
ENST00000691629.1:n.147+4521del
ENST00000338154.11:c.377del MANE Select ENSP00000338868.6:p.Leu126ArgfsTer3
ENST00000322659.12:c.377del ENSP00000319473.8:p.Leu126ArgfsTer3
ENST00000338154.10:c.377del ENSP00000338868.6:p.Leu126ArgfsTer3
ENST00000338946.10:c.377del ENSP00000340051.6:p.Leu126ArgfsTer3
ENST00000357988.9:c.485del ENSP00000350676.5:p.Leu162ArgfsTer3
ENST00000396282.6:c.88del
ENST00000425862.5:c.377del ENSP00000408113.1:p.Leu126=
NM_001184896.1:c.485del NP_001171825.1:p.Leu162ArgfsTer3
NM_001184897.1:c.377del NP_001171826.1:p.Leu126ArgfsTer3
NM_001184898.1:c.377del NP_001171827.1:p.Leu126ArgfsTer3
NM_015107.2:c.377del NP_055922.1:p.Leu126ArgfsTer3
XM_005261996.1:c.485del XP_005262053.1:p.Leu162ArgfsTer3
XM_005261997.2:c.377del XP_005262054.1:p.Leu126ArgfsTer3
XM_005261999.1:c.377del XP_005262056.1:p.Leu126ArgfsTer3
XM_005262000.1:c.485del XP_005262057.1:p.Leu162ArgfsTer3
XM_006724585.1:c.485del XP_006724648.1:p.Leu162ArgfsTer3
XM_011530778.1:c.485del XP_011529080.1:p.Leu162ArgfsTer3
XM_005261997.4:c.377del XP_005262054.1:p.Leu126ArgfsTer3
XM_017029361.2:c.377del XP_016884850.1:p.Leu126ArgfsTer3
XM_017029362.2:c.377del XP_016884851.1:p.Leu126ArgfsTer3
NM_001184898.2:c.377del NP_001171827.1:p.Leu126ArgfsTer3
NM_015107.3:c.377del MANE Select NP_055922.1:p.Leu126ArgfsTer3
NM_001184897.2:c.377del NP_001171826.1:p.Leu126ArgfsTer3