Canonical Allele Identifier: CA2459717773

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134414965_134414969delinsTTCTC , CM000685.2:g.134414965_134414969delinsTTCTC	GRCh38
NC_000023.10:g.133548995_133548999delinsTTCTC , CM000685.1:g.133548995_133548999delinsTTCTC	GRCh37
NC_000023.9:g.133376661_133376665delinsTTCTC	NCBI36
NG_008886.1:g.46654_46658delinsTTCTC , LRG_629:g.46654_46658delinsTTCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000685553.1:c.*649-51_*649-47delinsTTCTC	ENSP00000510193.1:n.*649-51_*649-47delins...
ENST00000687496.1:c.628-51_628-47delinsTTCTC	ENSP00000509551.1:n.628-51_628-47delinsTT...
ENST00000688598.1:c.628-51_628-47delinsTTCTC	ENSP00000510410.1:n.628-51_628-47delinsTT...
ENST00000691812.1:c.730-51_730-47delinsTTCTC	ENSP00000510211.1:n.730-51_730-47delinsTT...
ENST00000693759.1:c.*342-51_*342-47delinsTTCTC	ENSP00000509518.1:n.*342-51_*342-47delins...
ENST00000370803.8:c.730-51_730-47delinsTTCTC MANE Select	ENSP00000359839.4:n.730-51_730-47delinsTT...
ENST00000332070.7:c.730-51_730-47delinsTTCTC	ENSP00000329097.3:n.730-51_730-47delinsTT...
ENST00000370799.5:c.733-51_733-47delinsTTCTC	ENSP00000359835.1:n.733-51_733-47delinsTT...
ENST00000370800.4:c.733-51_733-47delinsTTCTC	ENSP00000359836.4:n.733-51_733-47delinsTT...
ENST00000370803.7:c.730-51_730-47delinsTTCTC	ENSP00000359839.3:n.730-51_730-47delinsTT...
ENST00000625464.2:c.733-51_733-47delinsTTCTC	ENSP00000487420.1:n.733-51_733-47delinsTT...
NM_001015877.1:c.730-51_730-47delinsTTCTC , LRG_629t1:c.730-51_730-47delinsTTCTC	NP_001015877.1:n.730-51_730-47delinsTTCTC...
NM_032335.3:c.733-51_733-47delinsTTCTC , LRG_629t2:c.733-51_733-47delinsTTCTC	NP_115711.2:n.733-51_733-47delinsTTCTC
NM_032458.2:c.730-51_730-47delinsTTCTC	NP_115834.1:n.730-51_730-47delinsTTCTC
NM_001015877.2:c.730-51_730-47delinsTTCTC MANE Select	NP_001015877.1:n.730-51_730-47delinsTTCTC...
NM_032458.3:c.730-51_730-47delinsTTCTC	NP_115834.1:n.730-51_730-47delinsTTCTC