Canonical Allele Identifier: CA645602526

Gene: PHF6

Linked Data

• COSMIC: COSM5880067 ; COSM5880068 ; COSM5880069

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413876_134413877insCC , CM000685.2:g.134413876_134413877insCC	GRCh38
NC_000023.10:g.133547906_133547907insCC , CM000685.1:g.133547906_133547907insCC	GRCh37
NC_000023.9:g.133375572_133375573insCC	NCBI36
NG_008886.1:g.45565_45566insCC , LRG_629:g.45565_45566insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*558_*559insCC	ENSP00000510193.1:n.*558_*559insCC
ENST00000687496.1:c.537_538insCC	ENSP00000509551.1:p.Phe180ProfsTer5
ENST00000688598.1:c.537_538insCC	ENSP00000510410.1:p.Phe180ProfsTer5
ENST00000691812.1:c.639_640insCC	ENSP00000510211.1:p.Phe214ProfsTer5
ENST00000693759.1:c.*251_*252insCC	ENSP00000509518.1:n.*251_*252insCC
ENST00000370803.8:c.639_640insCC MANE Select	ENSP00000359839.4:p.Phe214ProfsTer5
ENST00000332070.7:c.639_640insCC	ENSP00000329097.3:p.Phe214ProfsTer5
ENST00000370799.5:c.642_643insCC	ENSP00000359835.1:p.Phe215ProfsTer5
ENST00000370800.4:c.642_643insCC	ENSP00000359836.4:p.Phe215ProfsTer5
ENST00000370803.7:c.639_640insCC	ENSP00000359839.3:p.Phe214ProfsTer5
ENST00000625464.2:c.642_643insCC	ENSP00000487420.1:p.Phe215ProfsTer5
NM_001015877.1:c.639_640insCC , LRG_629t1:c.639_640insCC	NP_001015877.1:p.Phe214ProfsTer5
NM_032335.3:c.642_643insCC , LRG_629t2:c.642_643insCC	NP_115711.2:p.Phe215ProfsTer5
NM_032458.2:c.639_640insCC	NP_115834.1:p.Phe214ProfsTer5
NM_001015877.2:c.639_640insCC MANE Select	NP_001015877.1:p.Phe214ProfsTer5
NM_032458.3:c.639_640insCC	NP_115834.1:p.Phe214ProfsTer5