Canonical Allele Identifier: CA2430030674

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985033_53985039delinsGGGGTGC , CM000685.2:g.53985033_53985039delinsGGGGTGC	GRCh38
NC_000023.10:g.54011466_54011472delinsGGGGTGC , CM000685.1:g.54011466_54011472delinsGGGGTGC	GRCh37
NC_000023.9:g.54028191_54028197delinsGGGGTGC	NCBI36
NG_021309.1:g.65098_65104delinsGCACCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2015_2021delinsGCACCCC	ENSP00000340051.7:p.Arg672=
ENST00000396282.7:c.2318_2324delinsGCACCCC	ENSP00000379578.3:p.Arg773=
ENST00000686349.1:c.*773_*779delinsGCACCCC	ENSP00000510424.1:n.*773_*779delinsGCACCCC
ENST00000687764.1:c.*1760_*1766delinsGCACCCC	ENSP00000509967.1:n.*1760_*1766delinsGCACCCC
ENST00000691629.1:n.1682_1688delinsGCACCCC
ENST00000338154.11:c.2318_2324delinsGCACCCC MANE Select	ENSP00000338868.6:p.Arg773=
ENST00000322659.12:c.2267_2273delinsGCACCCC	ENSP00000319473.8:p.Arg756=
ENST00000338154.10:c.2318_2324delinsGCACCCC	ENSP00000338868.6:p.Arg773=
ENST00000338946.10:c.2015_2021delinsGCACCCC	ENSP00000340051.6:p.Arg672=
ENST00000357988.9:c.2426_2432delinsGCACCCC	ENSP00000350676.5:p.Arg809=
ENST00000396282.6:c.2029_2035delinsGCACCCC
ENST00000443302.5:c.1608_1614delinsGCACCCC
ENST00000615775.4:c.745_751delinsGCACCCC	ENSP00000482159.1:p.Ala249=
NM_001184896.1:c.2426_2432delinsGCACCCC	NP_001171825.1:p.Arg809=
NM_001184897.1:c.2015_2021delinsGCACCCC	NP_001171826.1:p.Arg672=
NM_001184898.1:c.2267_2273delinsGCACCCC	NP_001171827.1:p.Arg756=
NM_015107.2:c.2318_2324delinsGCACCCC	NP_055922.1:p.Arg773=
XM_005261996.1:c.2426_2432delinsGCACCCC	XP_005262053.1:p.Arg809=
XM_005261997.2:c.2318_2324delinsGCACCCC	XP_005262054.1:p.Arg773=
XM_005261999.1:c.2318_2324delinsGCACCCC	XP_005262056.1:p.Arg773=
XM_005262000.1:c.2123_2129delinsGCACCCC	XP_005262057.1:p.Arg708=
XM_006724585.1:c.2426_2432delinsGCACCCC	XP_006724648.1:p.Arg809=
XM_011530778.1:c.2426_2432delinsGCACCCC	XP_011529080.1:p.Arg809=
XM_005261997.4:c.2318_2324delinsGCACCCC	XP_005262054.1:p.Arg773=
XM_017029361.2:c.2318_2324delinsGCACCCC	XP_016884850.1:p.Arg773=
XM_017029362.2:c.2318_2324delinsGCACCCC	XP_016884851.1:p.Arg773=
NM_001184898.2:c.2267_2273delinsGCACCCC	NP_001171827.1:p.Arg756=
NM_015107.3:c.2318_2324delinsGCACCCC MANE Select	NP_055922.1:p.Arg773=
NM_001184897.2:c.2015_2021delinsGCACCCC	NP_001171826.1:p.Arg672=