Canonical Allele Identifier: CA2573047090

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134414113_134414114del , CM000685.2:g.134414113_134414114del	GRCh38
NC_000023.10:g.133548143_133548144del , CM000685.1:g.133548143_133548144del	GRCh37
NC_000023.9:g.133375809_133375810del	NCBI36
NG_008886.1:g.45802_45803del , LRG_629:g.45802_45803del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*648+147_*648+148del	ENSP00000510193.1:n.*648+147_*648+148del
ENST00000687496.1:c.627+147_627+148del	ENSP00000509551.1:n.627+147_627+148del
ENST00000688598.1:c.627+147_627+148del	ENSP00000510410.1:n.627+147_627+148del
ENST00000691812.1:c.729+147_729+148del	ENSP00000510211.1:n.729+147_729+148del
ENST00000693759.1:c.*341+147_*341+148del	ENSP00000509518.1:n.*341+147_*341+148del
ENST00000370803.8:c.729+147_729+148del MANE Select	ENSP00000359839.4:n.729+147_729+148del
ENST00000332070.7:c.729+147_729+148del	ENSP00000329097.3:n.729+147_729+148del
ENST00000370799.5:c.732+147_732+148del	ENSP00000359835.1:n.732+147_732+148del
ENST00000370800.4:c.732+147_732+148del	ENSP00000359836.4:n.732+147_732+148del
ENST00000370803.7:c.729+147_729+148del	ENSP00000359839.3:n.729+147_729+148del
ENST00000625464.2:c.732+147_732+148del	ENSP00000487420.1:n.732+147_732+148del
NM_001015877.1:c.729+147_729+148del , LRG_629t1:c.729+147_729+148del	NP_001015877.1:n.729+147_729+148del
NM_032335.3:c.732+147_732+148del , LRG_629t2:c.732+147_732+148del	NP_115711.2:n.732+147_732+148del
NM_032458.2:c.729+147_729+148del	NP_115834.1:n.729+147_729+148del
NM_001015877.2:c.729+147_729+148del MANE Select	NP_001015877.1:n.729+147_729+148del
NM_032458.3:c.729+147_729+148del	NP_115834.1:n.729+147_729+148del