Canonical Allele Identifier: CA645602539

Gene: PHF6

Linked Data

• COSMIC: COSM5944872

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415074_134415075insCCGTC , CM000685.2:g.134415074_134415075insCCGTC	GRCh38
NC_000023.10:g.133549104_133549105insCCGTC , CM000685.1:g.133549104_133549105insCCGTC	GRCh37
NC_000023.9:g.133376770_133376771insCCGTC	NCBI36
NG_008886.1:g.46763_46764insCCGTC , LRG_629:g.46763_46764insCCGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*707_*708insCCGTC	ENSP00000510193.1:n.*707_*708insCCGTC
ENST00000687496.1:c.686_687insCCGTC	ENSP00000509551.1:p.Asp230ArgfsTer17
ENST00000688598.1:c.686_687insCCGTC	ENSP00000510410.1:p.Asp230ArgfsTer17
ENST00000691812.1:c.788_789insCCGTC	ENSP00000510211.1:p.Asp264ArgfsTer17
ENST00000693759.1:c.*400_*401insCCGTC	ENSP00000509518.1:n.*400_*401insCCGTC
ENST00000370803.8:c.788_789insCCGTC MANE Select	ENSP00000359839.4:p.Asp264ArgfsTer17
ENST00000332070.7:c.788_789insCCGTC	ENSP00000329097.3:p.Asp264ArgfsTer17
ENST00000370799.5:c.791_792insCCGTC	ENSP00000359835.1:p.Asp265ArgfsTer17
ENST00000370800.4:c.791_792insCCGTC	ENSP00000359836.4:p.Asp265ArgfsTer30
ENST00000370803.7:c.788_789insCCGTC	ENSP00000359839.3:p.Asp264ArgfsTer17
ENST00000625464.2:c.791_792insCCGTC	ENSP00000487420.1:p.Asp265ArgfsTer17
NM_001015877.1:c.788_789insCCGTC , LRG_629t1:c.788_789insCCGTC	NP_001015877.1:p.Asp264ArgfsTer17
NM_032335.3:c.791_792insCCGTC , LRG_629t2:c.791_792insCCGTC	NP_115711.2:p.Asp265ArgfsTer30
NM_032458.2:c.788_789insCCGTC	NP_115834.1:p.Asp264ArgfsTer17
NM_001015877.2:c.788_789insCCGTC MANE Select	NP_001015877.1:p.Asp264ArgfsTer17
NM_032458.3:c.788_789insCCGTC	NP_115834.1:p.Asp264ArgfsTer17