Canonical Allele Identifier: CA2823680727

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413889_134413892del , CM000685.2:g.134413889_134413892del	GRCh38
NC_000023.10:g.133547919_133547922del , CM000685.1:g.133547919_133547922del	GRCh37
NC_000023.9:g.133375585_133375588del	NCBI36
NG_008886.1:g.45578_45581del , LRG_629:g.45578_45581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*571_*574del	ENSP00000510193.1:n.*571_*574del
ENST00000687496.1:c.550_553del	ENSP00000509551.1:p.Gly184ArgfsTer?
ENST00000688598.1:c.550_553del	ENSP00000510410.1:p.Gly184ArgfsTer?
ENST00000691812.1:c.652_655del	ENSP00000510211.1:p.Gly218ArgfsTer?
ENST00000693759.1:c.*264_*267del	ENSP00000509518.1:n.*264_*267del
ENST00000370803.8:c.652_655del MANE Select	ENSP00000359839.4:p.Gly218ArgfsTer?
ENST00000332070.7:c.652_655del	ENSP00000329097.3:p.Gly218ArgfsTer?
ENST00000370799.5:c.655_658del	ENSP00000359835.1:p.Gly219ArgfsTer?
ENST00000370800.4:c.655_658del	ENSP00000359836.4:p.Gly219ArgfsTer?
ENST00000370803.7:c.652_655del	ENSP00000359839.3:p.Gly218ArgfsTer?
ENST00000625464.2:c.655_658del	ENSP00000487420.1:p.Gly219ArgfsTer?
NM_001015877.1:c.652_655del , LRG_629t1:c.652_655del	NP_001015877.1:p.Gly218ArgfsTer?
NM_032335.3:c.655_658del , LRG_629t2:c.655_658del	NP_115711.2:p.Gly219ArgfsTer?
NM_032458.2:c.652_655del	NP_115834.1:p.Gly218ArgfsTer?
NM_001015877.2:c.652_655del MANE Select	NP_001015877.1:p.Gly218ArgfsTer?
NM_032458.3:c.652_655del	NP_115834.1:p.Gly218ArgfsTer?