Canonical Allele Identifier: CA645602527

Gene: PHF6

Linked Data

• COSMIC: COSM255182

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413890_134413904delinsCCCTTTAAAGGGA , CM000685.2:g.134413890_134413904delinsCCCTTTAAAGGGA	GRCh38
NC_000023.10:g.133547920_133547934delinsCCCTTTAAAGGGA , CM000685.1:g.133547920_133547934delinsCCCTTTAAAGGGA	GRCh37
NC_000023.9:g.133375586_133375600delinsCCCTTTAAAGGGA	NCBI36
NG_008886.1:g.45579_45593delinsCCCTTTAAAGGGA , LRG_629:g.45579_45593delinsCCCTTTAAAGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*572_*586delinsCCCTTTAAAGGGA	ENSP00000510193.1:n.*572_*586delinsCCCTTTAAAGGGA
ENST00000687496.1:c.551_565delinsCCCTTTAAAGGGA	ENSP00000509551.1:p.Gly184AlafsTer3
ENST00000688598.1:c.551_565delinsCCCTTTAAAGGGA	ENSP00000510410.1:p.Gly184AlafsTer3
ENST00000691812.1:c.653_667delinsCCCTTTAAAGGGA	ENSP00000510211.1:p.Gly218AlafsTer3
ENST00000693759.1:c.*265_*279delinsCCCTTTAAAGGGA	ENSP00000509518.1:n.*265_*279delinsCCCTTTAAAGGGA
ENST00000370803.8:c.653_667delinsCCCTTTAAAGGGA MANE Select	ENSP00000359839.4:p.Gly218AlafsTer3
ENST00000332070.7:c.653_667delinsCCCTTTAAAGGGA	ENSP00000329097.3:p.Gly218AlafsTer3
ENST00000370799.5:c.656_670delinsCCCTTTAAAGGGA	ENSP00000359835.1:p.Gly219AlafsTer3
ENST00000370800.4:c.656_670delinsCCCTTTAAAGGGA	ENSP00000359836.4:p.Gly219AlafsTer3
ENST00000370803.7:c.653_667delinsCCCTTTAAAGGGA	ENSP00000359839.3:p.Gly218AlafsTer3
ENST00000625464.2:c.656_670delinsCCCTTTAAAGGGA	ENSP00000487420.1:p.Gly219AlafsTer3
NM_001015877.1:c.653_667delinsCCCTTTAAAGGGA , LRG_629t1:c.653_667delinsCCCTTTAAAGGGA	NP_001015877.1:p.Gly218AlafsTer3
NM_032335.3:c.656_670delinsCCCTTTAAAGGGA , LRG_629t2:c.656_670delinsCCCTTTAAAGGGA	NP_115711.2:p.Gly219AlafsTer3
NM_032458.2:c.653_667delinsCCCTTTAAAGGGA	NP_115834.1:p.Gly218AlafsTer3
NM_001015877.2:c.653_667delinsCCCTTTAAAGGGA MANE Select	NP_001015877.1:p.Gly218AlafsTer3
NM_032458.3:c.653_667delinsCCCTTTAAAGGGA	NP_115834.1:p.Gly218AlafsTer3