Canonical Allele Identifier: CA645602538

Gene: PHF6

Linked Data

• COSMIC: COSM144574

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415065_134415066insCGGGAGGATCC , CM000685.2:g.134415065_134415066insCGGGAGGATCC	GRCh38
NC_000023.10:g.133549095_133549096insCGGGAGGATCC , CM000685.1:g.133549095_133549096insCGGGAGGATCC	GRCh37
NC_000023.9:g.133376761_133376762insCGGGAGGATCC	NCBI36
NG_008886.1:g.46754_46755insCGGGAGGATCC , LRG_629:g.46754_46755insCGGGAGGATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*698_*699insCGGGAGGATCC	ENSP00000510193.1:n.*698_*699insCGGGAGGATCC
ENST00000687496.1:c.677_678insCGGGAGGATCC	ENSP00000509551.1:p.Asp228ArgfsTer21
ENST00000688598.1:c.677_678insCGGGAGGATCC	ENSP00000510410.1:p.Asp228ArgfsTer21
ENST00000691812.1:c.779_780insCGGGAGGATCC	ENSP00000510211.1:p.Asp262ArgfsTer21
ENST00000693759.1:c.*391_*392insCGGGAGGATCC	ENSP00000509518.1:n.*391_*392insCGGGAGGATCC
ENST00000370803.8:c.779_780insCGGGAGGATCC MANE Select	ENSP00000359839.4:p.Asp262ArgfsTer21
ENST00000332070.7:c.779_780insCGGGAGGATCC	ENSP00000329097.3:p.Asp262ArgfsTer21
ENST00000370799.5:c.782_783insCGGGAGGATCC	ENSP00000359835.1:p.Asp263ArgfsTer21
ENST00000370800.4:c.782_783insCGGGAGGATCC	ENSP00000359836.4:p.Asp263ArgfsTer?
ENST00000370803.7:c.779_780insCGGGAGGATCC	ENSP00000359839.3:p.Asp262ArgfsTer21
ENST00000625464.2:c.782_783insCGGGAGGATCC	ENSP00000487420.1:p.Asp263ArgfsTer21
NM_001015877.1:c.779_780insCGGGAGGATCC , LRG_629t1:c.779_780insCGGGAGGATCC	NP_001015877.1:p.Asp262ArgfsTer21
NM_032335.3:c.782_783insCGGGAGGATCC , LRG_629t2:c.782_783insCGGGAGGATCC	NP_115711.2:p.Asp263ArgfsTer?
NM_032458.2:c.779_780insCGGGAGGATCC	NP_115834.1:p.Asp262ArgfsTer21
NM_001015877.2:c.779_780insCGGGAGGATCC MANE Select	NP_001015877.1:p.Asp262ArgfsTer21
NM_032458.3:c.779_780insCGGGAGGATCC	NP_115834.1:p.Asp262ArgfsTer21