Canonical Allele Identifier: CA645602530

Gene: PHF6

Linked Data

• COSMIC: COSM5751499 ; COSM5751500 ; COSM5751501

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413910_134413911insT , CM000685.2:g.134413910_134413911insT	GRCh38
NC_000023.10:g.133547940_133547941insT , CM000685.1:g.133547940_133547941insT	GRCh37
NC_000023.9:g.133375606_133375607insT	NCBI36
NG_008886.1:g.45599_45600insT , LRG_629:g.45599_45600insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*592_*593insT	ENSP00000510193.1:n.*592_*593insT
ENST00000687496.1:c.571_572insT	ENSP00000509551.1:p.Arg191LeufsTer8
ENST00000688598.1:c.571_572insT	ENSP00000510410.1:p.Arg191LeufsTer8
ENST00000691812.1:c.673_674insT	ENSP00000510211.1:p.Arg225LeufsTer8
ENST00000693759.1:c.*285_*286insT	ENSP00000509518.1:n.*285_*286insT
ENST00000370803.8:c.673_674insT MANE Select	ENSP00000359839.4:p.Arg225LeufsTer8
ENST00000332070.7:c.673_674insT	ENSP00000329097.3:p.Arg225LeufsTer8
ENST00000370799.5:c.676_677insT	ENSP00000359835.1:p.Arg226LeufsTer8
ENST00000370800.4:c.676_677insT	ENSP00000359836.4:p.Arg226LeufsTer8
ENST00000370803.7:c.673_674insT	ENSP00000359839.3:p.Arg225LeufsTer8
ENST00000625464.2:c.676_677insT	ENSP00000487420.1:p.Arg226LeufsTer8
NM_001015877.1:c.673_674insT , LRG_629t1:c.673_674insT	NP_001015877.1:p.Arg225LeufsTer8
NM_032335.3:c.676_677insT , LRG_629t2:c.676_677insT	NP_115711.2:p.Arg226LeufsTer8
NM_032458.2:c.673_674insT	NP_115834.1:p.Arg225LeufsTer8
NM_001015877.2:c.673_674insT MANE Select	NP_001015877.1:p.Arg225LeufsTer8
NM_032458.3:c.673_674insT	NP_115834.1:p.Arg225LeufsTer8