Canonical Allele Identifier: CA645602533

Gene: PHF6

Linked Data

• COSMIC: COSM5752074 ; COSM5752075 ; COSM5752076

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413958_134413959insCA , CM000685.2:g.134413958_134413959insCA	GRCh38
NC_000023.10:g.133547988_133547989insCA , CM000685.1:g.133547988_133547989insCA	GRCh37
NC_000023.9:g.133375654_133375655insCA	NCBI36
NG_008886.1:g.45647_45648insCA , LRG_629:g.45647_45648insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*640_*641insCA	ENSP00000510193.1:n.*640_*641insCA
ENST00000687496.1:c.619_620insCA	ENSP00000509551.1:p.Lys207ThrfsTer?
ENST00000688598.1:c.619_620insCA	ENSP00000510410.1:p.Lys207ThrfsTer?
ENST00000691812.1:c.721_722insCA	ENSP00000510211.1:p.Lys241ThrfsTer?
ENST00000693759.1:c.*333_*334insCA	ENSP00000509518.1:n.*333_*334insCA
ENST00000370803.8:c.721_722insCA MANE Select	ENSP00000359839.4:p.Lys241ThrfsTer?
ENST00000332070.7:c.721_722insCA	ENSP00000329097.3:p.Lys241ThrfsTer?
ENST00000370799.5:c.724_725insCA	ENSP00000359835.1:p.Lys242ThrfsTer?
ENST00000370800.4:c.724_725insCA	ENSP00000359836.4:p.Lys242ThrfsTer?
ENST00000370803.7:c.721_722insCA	ENSP00000359839.3:p.Lys241ThrfsTer?
ENST00000625464.2:c.724_725insCA	ENSP00000487420.1:p.Lys242ThrfsTer?
NM_001015877.1:c.721_722insCA , LRG_629t1:c.721_722insCA	NP_001015877.1:p.Lys241ThrfsTer?
NM_032335.3:c.724_725insCA , LRG_629t2:c.724_725insCA	NP_115711.2:p.Lys242ThrfsTer?
NM_032458.2:c.721_722insCA	NP_115834.1:p.Lys241ThrfsTer?
NM_001015877.2:c.721_722insCA MANE Select	NP_001015877.1:p.Lys241ThrfsTer?
NM_032458.3:c.721_722insCA	NP_115834.1:p.Lys241ThrfsTer?