Canonical Allele Identifier: CA2519210689
Gene: PHF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54042741_54042762del , CM000685.2:g.54042741_54042762del GRCh38
NC_000023.10:g.54069174_54069195del , CM000685.1:g.54069174_54069195del GRCh37
NC_000023.9:g.54085899_54085920del NCBI36
NG_021309.1:g.7380_7401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000686349.1:c.-29_-8del ENSP00000510424.1:n.-29_-8del
ENST00000687764.1:c.-29_-8del ENSP00000509967.1:n.-29_-8del
ENST00000338154.11:c.-29_-8del MANE Select ENSP00000338868.6:n.-29_-8del
ENST00000322659.12:c.-29_-8del ENSP00000319473.8:n.-29_-8del
ENST00000338154.10:c.-29_-8del ENSP00000338868.6:n.-29_-8del
ENST00000338946.10:c.-29_-8del ENSP00000340051.6:n.-29_-8del
ENST00000357988.9:c.80_101del ENSP00000350676.5:p.Gly27GlufsTer19
ENST00000415025.5:c.-29_-8del ENSP00000404117.1:n.-29_-8del
ENST00000425862.5:c.-29_-8del ENSP00000408113.1:n.-29_-8del
ENST00000433120.5:c.-29_-8del ENSP00000410100.1:n.-29_-8del
ENST00000437224.5:c.-29_-8del ENSP00000398995.1:n.-29_-8del
ENST00000445025.1:c.-29_-8del ENSP00000416546.1:n.-29_-8del
ENST00000453905.5:c.80_101del ENSP00000405897.1:p.Gly27GlufsTer19
NM_001184896.1:c.80_101del NP_001171825.1:p.Gly27GlufsTer19
NM_001184897.1:c.-29_-8del NP_001171826.1:n.-29_-8del
NM_001184898.1:c.-29_-8del NP_001171827.1:n.-29_-8del
NM_015107.2:c.-29_-8del NP_055922.1:n.-29_-8del
XM_005261996.1:c.80_101del XP_005262053.1:p.Gly27GlufsTer19
XM_005261997.2:c.-29_-8del XP_005262054.1:n.-29_-8del
XM_005261999.1:c.-29_-8del XP_005262056.1:n.-29_-8del
XM_005262000.1:c.80_101del XP_005262057.1:p.Gly27GlufsTer19
XM_006724585.1:c.80_101del XP_006724648.1:p.Gly27GlufsTer19
XM_011530778.1:c.80_101del XP_011529080.1:p.Gly27GlufsTer19
XM_005261997.4:c.-29_-8del XP_005262054.1:n.-29_-8del
XM_017029361.2:c.-29_-8del XP_016884850.1:n.-29_-8del
XM_017029362.2:c.-29_-8del XP_016884851.1:n.-29_-8del
NM_001184898.2:c.-29_-8del NP_001171827.1:n.-29_-8del
NM_015107.3:c.-29_-8del MANE Select NP_055922.1:n.-29_-8del
NM_001184897.2:c.-29_-8del NP_001171826.1:n.-29_-8del