Canonical Allele Identifier: CA645509233

Gene: PHF6

Linked Data

• ClinVar Variation Id: 438300
• ClinVar RCV Id: RCV000505186
• dbSNP Id: rs1556019105
• MyVariant Identifiers: chrX:g.133549079_133549081del (hg19) ; chrX:g.134415049_134415051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134415049_134415051del , CM000685.2:g.134415049_134415051del	GRCh38
NC_000023.10:g.133549079_133549081del , CM000685.1:g.133549079_133549081del	GRCh37
NC_000023.9:g.133376745_133376747del	NCBI36
NG_008886.1:g.46738_46740del , LRG_629:g.46738_46740del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*682_*684del	ENSP00000510193.1:n.*682_*684del
ENST00000687496.1:c.661_663del	ENSP00000509551.1:p.Thr221del
ENST00000688598.1:c.661_663del	ENSP00000510410.1:p.Thr221del
ENST00000691812.1:c.763_765del	ENSP00000510211.1:p.Thr255del
ENST00000693759.1:c.*375_*377del	ENSP00000509518.1:n.*375_*377del
ENST00000370803.8:c.763_765del MANE Select	ENSP00000359839.4:p.Thr255del
ENST00000332070.7:c.763_765del	ENSP00000329097.3:p.Thr255del
ENST00000370799.5:c.766_768del	ENSP00000359835.1:p.Thr256del
ENST00000370800.4:c.766_768del	ENSP00000359836.4:p.Thr256del
ENST00000370803.7:c.763_765del	ENSP00000359839.3:p.Thr255del
ENST00000625464.2:c.766_768del	ENSP00000487420.1:p.Thr256del
NM_001015877.1:c.763_765del , LRG_629t1:c.763_765del	NP_001015877.1:p.Thr255del
NM_032335.3:c.766_768del , LRG_629t2:c.766_768del	NP_115711.2:p.Thr256del
NM_032458.2:c.763_765del	NP_115834.1:p.Thr255del
NM_001015877.2:c.763_765del MANE Select	NP_001015877.1:p.Thr255del
NM_032458.3:c.763_765del	NP_115834.1:p.Thr255del