Canonical Allele Identifier: CA2823680750

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415085dup , CM000685.2:g.134415085dup	GRCh38
NC_000023.10:g.133549115dup , CM000685.1:g.133549115dup	GRCh37
NC_000023.9:g.133376781dup	NCBI36
NG_008886.1:g.46774dup , LRG_629:g.46774dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*718dup	ENSP00000510193.1:n.*718dup
ENST00000687496.1:c.697dup	ENSP00000509551.1:p.Thr233AsnfsTer7
ENST00000688598.1:c.697dup	ENSP00000510410.1:p.Thr233AsnfsTer7
ENST00000691812.1:c.799dup	ENSP00000510211.1:p.Thr267AsnfsTer7
ENST00000693759.1:c.*411dup	ENSP00000509518.1:n.*411dup
ENST00000370803.8:c.799dup MANE Select	ENSP00000359839.4:p.Thr267AsnfsTer7
ENST00000332070.7:c.799dup	ENSP00000329097.3:p.Thr267AsnfsTer7
ENST00000370799.5:c.802dup	ENSP00000359835.1:p.Thr268AsnfsTer7
ENST00000370800.4:c.802dup	ENSP00000359836.4:p.Thr268AsnfsTer7
ENST00000370803.7:c.799dup	ENSP00000359839.3:p.Thr267AsnfsTer7
ENST00000625464.2:c.802dup	ENSP00000487420.1:p.Thr268AsnfsTer7
NM_001015877.1:c.799dup , LRG_629t1:c.799dup	NP_001015877.1:p.Thr267AsnfsTer7
NM_032335.3:c.802dup , LRG_629t2:c.802dup	NP_115711.2:p.Thr268AsnfsTer7
NM_032458.2:c.799dup	NP_115834.1:p.Thr267AsnfsTer7
NM_001015877.2:c.799dup MANE Select	NP_001015877.1:p.Thr267AsnfsTer7
NM_032458.3:c.799dup	NP_115834.1:p.Thr267AsnfsTer7