Canonical Allele Identifier: CA2695202447

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413888_134413889insT , CM000685.2:g.134413888_134413889insT	GRCh38
NC_000023.10:g.133547918_133547919insT , CM000685.1:g.133547918_133547919insT	GRCh37
NC_000023.9:g.133375584_133375585insT	NCBI36
NG_008886.1:g.45577_45578insT , LRG_629:g.45577_45578insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*570_*571insT	ENSP00000510193.1:n.*570_*571insT
ENST00000687496.1:c.549_550insT	ENSP00000509551.1:p.Gly184TrpfsTer6
ENST00000688598.1:c.549_550insT	ENSP00000510410.1:p.Gly184TrpfsTer6
ENST00000691812.1:c.651_652insT	ENSP00000510211.1:p.Gly218TrpfsTer6
ENST00000693759.1:c.*263_*264insT	ENSP00000509518.1:n.*263_*264insT
ENST00000370803.8:c.651_652insT MANE Select	ENSP00000359839.4:p.Gly218TrpfsTer6
ENST00000332070.7:c.651_652insT	ENSP00000329097.3:p.Gly218TrpfsTer6
ENST00000370799.5:c.654_655insT	ENSP00000359835.1:p.Gly219TrpfsTer6
ENST00000370800.4:c.654_655insT	ENSP00000359836.4:p.Gly219TrpfsTer6
ENST00000370803.7:c.651_652insT	ENSP00000359839.3:p.Gly218TrpfsTer6
ENST00000625464.2:c.654_655insT	ENSP00000487420.1:p.Gly219TrpfsTer6
NM_001015877.1:c.651_652insT , LRG_629t1:c.651_652insT	NP_001015877.1:p.Gly218TrpfsTer6
NM_032335.3:c.654_655insT , LRG_629t2:c.654_655insT	NP_115711.2:p.Gly219TrpfsTer6
NM_032458.2:c.651_652insT	NP_115834.1:p.Gly218TrpfsTer6
NM_001015877.2:c.651_652insT MANE Select	NP_001015877.1:p.Gly218TrpfsTer6
NM_032458.3:c.651_652insT	NP_115834.1:p.Gly218TrpfsTer6