Canonical Allele Identifier: CA2573332016

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415079_134415080insG , CM000685.2:g.134415079_134415080insG	GRCh38
NC_000023.10:g.133549109_133549110insG , CM000685.1:g.133549109_133549110insG	GRCh37
NC_000023.9:g.133376775_133376776insG	NCBI36
NG_008886.1:g.46768_46769insG , LRG_629:g.46768_46769insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*712_*713insG	ENSP00000510193.1:n.*712_*713insG
ENST00000687496.1:c.691_692insG	ENSP00000509551.1:p.Ile231SerfsTer2
ENST00000688598.1:c.691_692insG	ENSP00000510410.1:p.Ile231SerfsTer2
ENST00000691812.1:c.793_794insG	ENSP00000510211.1:p.Ile265SerfsTer2
ENST00000693759.1:c.*405_*406insG	ENSP00000509518.1:n.*405_*406insG
ENST00000370803.8:c.793_794insG MANE Select	ENSP00000359839.4:p.Ile265SerfsTer2
ENST00000332070.7:c.793_794insG	ENSP00000329097.3:p.Ile265SerfsTer2
ENST00000370799.5:c.796_797insG	ENSP00000359835.1:p.Ile266SerfsTer2
ENST00000370800.4:c.796_797insG	ENSP00000359836.4:p.Ile266SerfsTer2
ENST00000370803.7:c.793_794insG	ENSP00000359839.3:p.Ile265SerfsTer2
ENST00000625464.2:c.796_797insG	ENSP00000487420.1:p.Ile266SerfsTer2
NM_001015877.1:c.793_794insG , LRG_629t1:c.793_794insG	NP_001015877.1:p.Ile265SerfsTer2
NM_032335.3:c.796_797insG , LRG_629t2:c.796_797insG	NP_115711.2:p.Ile266SerfsTer2
NM_032458.2:c.793_794insG	NP_115834.1:p.Ile265SerfsTer2
NM_001015877.2:c.793_794insG MANE Select	NP_001015877.1:p.Ile265SerfsTer2
NM_032458.3:c.793_794insG	NP_115834.1:p.Ile265SerfsTer2