Canonical Allele Identifier: CA2579619971
Gene: PHF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54042786_54042795del , CM000685.2:g.54042786_54042795del GRCh38
NC_000023.10:g.54069219_54069228del , CM000685.1:g.54069219_54069228del GRCh37
NC_000023.9:g.54085944_54085953del NCBI36
NG_021309.1:g.7345_7354del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686349.1:c.-64_-55del ENSP00000510424.1:n.-64_-55del
ENST00000687764.1:c.-64_-55del ENSP00000509967.1:n.-64_-55del
ENST00000338154.11:c.-64_-55del MANE Select ENSP00000338868.6:n.-64_-55del
ENST00000322659.12:c.-64_-55del ENSP00000319473.8:n.-64_-55del
ENST00000338154.10:c.-64_-55del ENSP00000338868.6:n.-64_-55del
ENST00000338946.10:c.-64_-55del ENSP00000340051.6:n.-64_-55del
ENST00000357988.9:c.45_54del ENSP00000350676.5:p.Pro16LeufsTer?
ENST00000415025.5:c.-64_-55del ENSP00000404117.1:n.-64_-55del
ENST00000425862.5:c.-64_-55del ENSP00000408113.1:n.-64_-55del
ENST00000433120.5:c.-64_-55del ENSP00000410100.1:n.-64_-55del
ENST00000437224.5:c.-64_-55del ENSP00000398995.1:n.-64_-55del
ENST00000445025.1:c.-64_-55del ENSP00000416546.1:n.-64_-55del
ENST00000453905.5:c.45_54del ENSP00000405897.1:p.Pro16LeufsTer?
NM_001184896.1:c.45_54del NP_001171825.1:p.Pro16LeufsTer?
NM_001184897.1:c.-64_-55del NP_001171826.1:n.-64_-55del
NM_001184898.1:c.-64_-55del NP_001171827.1:n.-64_-55del
NM_015107.2:c.-64_-55del NP_055922.1:n.-64_-55del
XM_005261996.1:c.45_54del XP_005262053.1:p.Pro16LeufsTer?
XM_005261997.2:c.-64_-55del XP_005262054.1:n.-64_-55del
XM_005261999.1:c.-64_-55del XP_005262056.1:n.-64_-55del
XM_005262000.1:c.45_54del XP_005262057.1:p.Pro16LeufsTer?
XM_006724585.1:c.45_54del XP_006724648.1:p.Pro16LeufsTer?
XM_011530778.1:c.45_54del XP_011529080.1:p.Pro16LeufsTer?
XM_005261997.4:c.-64_-55del XP_005262054.1:n.-64_-55del
XM_017029361.2:c.-64_-55del XP_016884850.1:n.-64_-55del
XM_017029362.2:c.-64_-55del XP_016884851.1:n.-64_-55del
NM_001184898.2:c.-64_-55del NP_001171827.1:n.-64_-55del
NM_015107.3:c.-64_-55del MANE Select NP_055922.1:n.-64_-55del
NM_001184897.2:c.-64_-55del NP_001171826.1:n.-64_-55del