Canonical Allele Identifier: CA518651921

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415075dup , CM000685.2:g.134415075dup	GRCh38
NC_000023.10:g.133549105dup , CM000685.1:g.133549105dup	GRCh37
NC_000023.9:g.133376771dup	NCBI36
NG_008886.1:g.46764dup , LRG_629:g.46764dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.789dup MANE Select	NP_001015877.1:p.Asp264Ter
ENST00000370803.8:c.789dup MANE Select	ENSP00000359839.4:p.Asp264Ter
NM_001015877.1:c.789dup , LRG_629t1:c.789dup	NP_001015877.1:p.Asp264Ter
NM_032335.3:c.792dup , LRG_629t2:c.792dup	NP_115711.2:p.Asp265Ter
NM_032458.2:c.789dup	NP_115834.1:p.Asp264Ter
NM_032458.3:c.789dup	NP_115834.1:p.Asp264Ter
ENST00000332070.7:c.789dup	ENSP00000329097.3:p.Asp264Ter
ENST00000370799.5:c.792dup	ENSP00000359835.1:p.Asp265Ter
ENST00000370800.4:c.792dup	ENSP00000359836.4:p.Asp265Ter
ENST00000370803.7:c.789dup	ENSP00000359839.3:p.Asp264Ter
ENST00000625464.2:c.792dup	ENSP00000487420.1:p.Asp265Ter
ENST00000685553.1:c.*708dup	ENSP00000510193.1:n.*708dup
ENST00000687496.1:c.687dup	ENSP00000509551.1:p.Asp230Ter
ENST00000688598.1:c.687dup	ENSP00000510410.1:p.Asp230Ter
ENST00000691812.1:c.789dup	ENSP00000510211.1:p.Asp264Ter
ENST00000693759.1:c.*401dup	ENSP00000509518.1:n.*401dup