Canonical Allele Identifier: CA2695236439

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413914del , CM000685.2:g.134413914del	GRCh38
NC_000023.10:g.133547944del , CM000685.1:g.133547944del	GRCh37
NC_000023.9:g.133375610del	NCBI36
NG_008886.1:g.45603del , LRG_629:g.45603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*596del	ENSP00000510193.1:n.*596del
ENST00000687496.1:c.575del	ENSP00000509551.1:p.Gly192GlufsTer?
ENST00000688598.1:c.575del	ENSP00000510410.1:p.Gly192GlufsTer?
ENST00000691812.1:c.677del	ENSP00000510211.1:p.Gly226GlufsTer?
ENST00000693759.1:c.*289del	ENSP00000509518.1:n.*289del
ENST00000370803.8:c.677del MANE Select	ENSP00000359839.4:p.Gly226GlufsTer?
ENST00000332070.7:c.677del	ENSP00000329097.3:p.Gly226GlufsTer?
ENST00000370799.5:c.680del	ENSP00000359835.1:p.Gly227GlufsTer?
ENST00000370800.4:c.680del	ENSP00000359836.4:p.Gly227GlufsTer?
ENST00000370803.7:c.677del	ENSP00000359839.3:p.Gly226GlufsTer?
ENST00000625464.2:c.680del	ENSP00000487420.1:p.Gly227GlufsTer?
NM_001015877.1:c.677del , LRG_629t1:c.677del	NP_001015877.1:p.Gly226GlufsTer?
NM_032335.3:c.680del , LRG_629t2:c.680del	NP_115711.2:p.Gly227GlufsTer?
NM_032458.2:c.677del	NP_115834.1:p.Gly226GlufsTer?
NM_001015877.2:c.677del MANE Select	NP_001015877.1:p.Gly226GlufsTer?
NM_032458.3:c.677del	NP_115834.1:p.Gly226GlufsTer?