Canonical Allele Identifier: CA645602537

Gene: PHF6

Linked Data

• COSMIC: COSM5752092 ; COSM5752093 ; COSM5752094

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415066_134415075del , CM000685.2:g.134415066_134415075del	GRCh38
NC_000023.10:g.133549096_133549105del , CM000685.1:g.133549096_133549105del	GRCh37
NC_000023.9:g.133376762_133376771del	NCBI36
NG_008886.1:g.46755_46764del , LRG_629:g.46755_46764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*699_*708del	ENSP00000510193.1:n.*699_*708del
ENST00000687496.1:c.678_687del	ENSP00000509551.1:p.Phe226LeufsTer16
ENST00000688598.1:c.678_687del	ENSP00000510410.1:p.Phe226LeufsTer16
ENST00000691812.1:c.780_789del	ENSP00000510211.1:p.Phe260LeufsTer16
ENST00000693759.1:c.*392_*401del	ENSP00000509518.1:n.*392_*401del
ENST00000370803.8:c.780_789del MANE Select	ENSP00000359839.4:p.Phe260LeufsTer16
ENST00000332070.7:c.780_789del	ENSP00000329097.3:p.Phe260LeufsTer16
ENST00000370799.5:c.783_792del	ENSP00000359835.1:p.Phe261LeufsTer16
ENST00000370800.4:c.783_792del	ENSP00000359836.4:p.Phe261LeufsTer29
ENST00000370803.7:c.780_789del	ENSP00000359839.3:p.Phe260LeufsTer16
ENST00000625464.2:c.783_792del	ENSP00000487420.1:p.Phe261LeufsTer16
NM_001015877.1:c.780_789del , LRG_629t1:c.780_789del	NP_001015877.1:p.Phe260LeufsTer16
NM_032335.3:c.783_792del , LRG_629t2:c.783_792del	NP_115711.2:p.Phe261LeufsTer29
NM_032458.2:c.780_789del	NP_115834.1:p.Phe260LeufsTer16
NM_001015877.2:c.780_789del MANE Select	NP_001015877.1:p.Phe260LeufsTer16
NM_032458.3:c.780_789del	NP_115834.1:p.Phe260LeufsTer16