Canonical Allele Identifier: CA3064219524

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415071del , CM000685.2:g.134415071del	GRCh38
NC_000023.10:g.133549101del , CM000685.1:g.133549101del	GRCh37
NC_000023.9:g.133376767del	NCBI36
NG_008886.1:g.46760del , LRG_629:g.46760del

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.785del MANE Select	NP_001015877.1:p.Asp262AlafsTer17
ENST00000370803.8:c.785del MANE Select	ENSP00000359839.4:p.Asp262AlafsTer17
NM_001015877.1:c.785del , LRG_629t1:c.785del	NP_001015877.1:p.Asp262AlafsTer17
NM_032335.3:c.788del , LRG_629t2:c.788del	NP_115711.2:p.Asp263AlafsTer30
NM_032458.2:c.785del	NP_115834.1:p.Asp262AlafsTer17
NM_032458.3:c.785del	NP_115834.1:p.Asp262AlafsTer17
ENST00000332070.7:c.785del	ENSP00000329097.3:p.Asp262AlafsTer17
ENST00000370799.5:c.788del	ENSP00000359835.1:p.Asp263AlafsTer17
ENST00000370800.4:c.788del	ENSP00000359836.4:p.Asp263AlafsTer30
ENST00000370803.7:c.785del	ENSP00000359839.3:p.Asp262AlafsTer17
ENST00000625464.2:c.788del	ENSP00000487420.1:p.Asp263AlafsTer17
ENST00000685553.1:c.*704del	ENSP00000510193.1:n.*704del
ENST00000687496.1:c.683del	ENSP00000509551.1:p.Asp228AlafsTer17
ENST00000688598.1:c.683del	ENSP00000510410.1:p.Asp228AlafsTer17
ENST00000691812.1:c.785del	ENSP00000510211.1:p.Asp262AlafsTer17
ENST00000693759.1:c.*397del	ENSP00000509518.1:n.*397del