Canonical Allele Identifier: CA2579619385

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985058del , CM000685.2:g.53985058del	GRCh38
NC_000023.10:g.54011491del , CM000685.1:g.54011491del	GRCh37
NC_000023.9:g.54028216del	NCBI36
NG_021309.1:g.65080del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1997del	ENSP00000340051.7:p.Asn666ThrfsTer?
ENST00000396282.7:c.2300del	ENSP00000379578.3:p.Asn767ThrfsTer?
ENST00000686349.1:c.*755del	ENSP00000510424.1:n.*755del
ENST00000687764.1:c.*1742del	ENSP00000509967.1:n.*1742del
ENST00000691629.1:n.1664del
ENST00000338154.11:c.2300del MANE Select	ENSP00000338868.6:p.Asn767ThrfsTer?
ENST00000322659.12:c.2249del	ENSP00000319473.8:p.Asn750ThrfsTer?
ENST00000338154.10:c.2300del	ENSP00000338868.6:p.Asn767ThrfsTer?
ENST00000338946.10:c.1997del	ENSP00000340051.6:p.Asn666ThrfsTer?
ENST00000357988.9:c.2408del	ENSP00000350676.5:p.Asn803ThrfsTer?
ENST00000396282.6:c.2011del
ENST00000443302.5:c.1590del
ENST00000615775.4:c.727del	ENSP00000482159.1:p.Thr243GlnfsTer?
NM_001184896.1:c.2408del	NP_001171825.1:p.Asn803ThrfsTer?
NM_001184897.1:c.1997del	NP_001171826.1:p.Asn666ThrfsTer?
NM_001184898.1:c.2249del	NP_001171827.1:p.Asn750ThrfsTer?
NM_015107.2:c.2300del	NP_055922.1:p.Asn767ThrfsTer?
XM_005261996.1:c.2408del	XP_005262053.1:p.Asn803ThrfsTer?
XM_005261997.2:c.2300del	XP_005262054.1:p.Asn767ThrfsTer?
XM_005261999.1:c.2300del	XP_005262056.1:p.Asn767ThrfsTer?
XM_005262000.1:c.2105del	XP_005262057.1:p.Asn702ThrfsTer?
XM_006724585.1:c.2408del	XP_006724648.1:p.Asn803ThrfsTer?
XM_011530778.1:c.2408del	XP_011529080.1:p.Asn803ThrfsTer?
XM_005261997.4:c.2300del	XP_005262054.1:p.Asn767ThrfsTer?
XM_017029361.2:c.2300del	XP_016884850.1:p.Asn767ThrfsTer?
XM_017029362.2:c.2300del	XP_016884851.1:p.Asn767ThrfsTer?
NM_001184898.2:c.2249del	NP_001171827.1:p.Asn750ThrfsTer?
NM_015107.3:c.2300del MANE Select	NP_055922.1:p.Asn767ThrfsTer?
NM_001184897.2:c.1997del	NP_001171826.1:p.Asn666ThrfsTer?