Canonical Allele Identifier: CA3065052597

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134414970_134414971del , CM000685.2:g.134414970_134414971del	GRCh38
NC_000023.10:g.133549000_133549001del , CM000685.1:g.133549000_133549001del	GRCh37
NC_000023.9:g.133376666_133376667del	NCBI36
NG_008886.1:g.46659_46660del , LRG_629:g.46659_46660del

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.730-46_730-45del MANE Select	NP_001015877.1:n.730-46_730-45del
ENST00000370803.8:c.730-46_730-45del MANE Select	ENSP00000359839.4:n.730-46_730-45del
NM_001015877.1:c.730-46_730-45del , LRG_629t1:c.730-46_730-45del	NP_001015877.1:n.730-46_730-45del
NM_032335.3:c.733-46_733-45del , LRG_629t2:c.733-46_733-45del	NP_115711.2:n.733-46_733-45del
NM_032458.2:c.730-46_730-45del	NP_115834.1:n.730-46_730-45del
NM_032458.3:c.730-46_730-45del	NP_115834.1:n.730-46_730-45del
ENST00000332070.7:c.730-46_730-45del	ENSP00000329097.3:n.730-46_730-45del
ENST00000370799.5:c.733-46_733-45del	ENSP00000359835.1:n.733-46_733-45del
ENST00000370800.4:c.733-46_733-45del	ENSP00000359836.4:n.733-46_733-45del
ENST00000370803.7:c.730-46_730-45del	ENSP00000359839.3:n.730-46_730-45del
ENST00000625464.2:c.733-46_733-45del	ENSP00000487420.1:n.733-46_733-45del
ENST00000685553.1:c.*649-46_*649-45del	ENSP00000510193.1:n.*649-46_*649-45del
ENST00000687496.1:c.628-46_628-45del	ENSP00000509551.1:n.628-46_628-45del
ENST00000688598.1:c.628-46_628-45del	ENSP00000510410.1:n.628-46_628-45del
ENST00000691812.1:c.730-46_730-45del	ENSP00000510211.1:n.730-46_730-45del
ENST00000693759.1:c.*342-46_*342-45del	ENSP00000509518.1:n.*342-46_*342-45del