Canonical Allele Identifier: CA2849481797

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415071_134415072insAACCC , CM000685.2:g.134415071_134415072insAACCC	GRCh38
NC_000023.10:g.133549101_133549102insAACCC , CM000685.1:g.133549101_133549102insAACCC	GRCh37
NC_000023.9:g.133376767_133376768insAACCC	NCBI36
NG_008886.1:g.46760_46761insAACCC , LRG_629:g.46760_46761insAACCC

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.785_786insAACCC MANE Select	NP_001015877.1:p.Asp262GlufsTer19
ENST00000370803.8:c.785_786insAACCC MANE Select	ENSP00000359839.4:p.Asp262GlufsTer19
NM_001015877.1:c.785_786insAACCC , LRG_629t1:c.785_786insAACCC	NP_001015877.1:p.Asp262GlufsTer19
NM_032335.3:c.788_789insAACCC , LRG_629t2:c.788_789insAACCC	NP_115711.2:p.Asp263GlufsTer32
NM_032458.2:c.785_786insAACCC	NP_115834.1:p.Asp262GlufsTer19
NM_032458.3:c.785_786insAACCC	NP_115834.1:p.Asp262GlufsTer19
ENST00000332070.7:c.785_786insAACCC	ENSP00000329097.3:p.Asp262GlufsTer19
ENST00000370799.5:c.788_789insAACCC	ENSP00000359835.1:p.Asp263GlufsTer19
ENST00000370800.4:c.788_789insAACCC	ENSP00000359836.4:p.Asp263GlufsTer32
ENST00000370803.7:c.785_786insAACCC	ENSP00000359839.3:p.Asp262GlufsTer19
ENST00000625464.2:c.788_789insAACCC	ENSP00000487420.1:p.Asp263GlufsTer19
ENST00000685553.1:c.*704_*705insAACCC	ENSP00000510193.1:n.*704_*705insAACCC
ENST00000687496.1:c.683_684insAACCC	ENSP00000509551.1:p.Asp228GlufsTer19
ENST00000688598.1:c.683_684insAACCC	ENSP00000510410.1:p.Asp228GlufsTer19
ENST00000691812.1:c.785_786insAACCC	ENSP00000510211.1:p.Asp262GlufsTer19
ENST00000693759.1:c.*397_*398insAACCC	ENSP00000509518.1:n.*397_*398insAACCC