Canonical Allele Identifier: CA645602540

Gene: PHF6

Linked Data

• COSMIC: COSM4775023 ; COSM4775024 ; COSM4775025

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415076_134415077insCG , CM000685.2:g.134415076_134415077insCG	GRCh38
NC_000023.10:g.133549106_133549107insCG , CM000685.1:g.133549106_133549107insCG	GRCh37
NC_000023.9:g.133376772_133376773insCG	NCBI36
NG_008886.1:g.46765_46766insCG , LRG_629:g.46765_46766insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*709_*710insCG	ENSP00000510193.1:n.*709_*710insCG
ENST00000687496.1:c.688_689insCG	ENSP00000509551.1:p.Asp230AlafsTer16
ENST00000688598.1:c.688_689insCG	ENSP00000510410.1:p.Asp230AlafsTer16
ENST00000691812.1:c.790_791insCG	ENSP00000510211.1:p.Asp264AlafsTer16
ENST00000693759.1:c.*402_*403insCG	ENSP00000509518.1:n.*402_*403insCG
ENST00000370803.8:c.790_791insCG MANE Select	ENSP00000359839.4:p.Asp264AlafsTer16
ENST00000332070.7:c.790_791insCG	ENSP00000329097.3:p.Asp264AlafsTer16
ENST00000370799.5:c.793_794insCG	ENSP00000359835.1:p.Asp265AlafsTer16
ENST00000370800.4:c.793_794insCG	ENSP00000359836.4:p.Asp265AlafsTer29
ENST00000370803.7:c.790_791insCG	ENSP00000359839.3:p.Asp264AlafsTer16
ENST00000625464.2:c.793_794insCG	ENSP00000487420.1:p.Asp265AlafsTer16
NM_001015877.1:c.790_791insCG , LRG_629t1:c.790_791insCG	NP_001015877.1:p.Asp264AlafsTer16
NM_032335.3:c.793_794insCG , LRG_629t2:c.793_794insCG	NP_115711.2:p.Asp265AlafsTer29
NM_032458.2:c.790_791insCG	NP_115834.1:p.Asp264AlafsTer16
NM_001015877.2:c.790_791insCG MANE Select	NP_001015877.1:p.Asp264AlafsTer16
NM_032458.3:c.790_791insCG	NP_115834.1:p.Asp264AlafsTer16