Canonical Allele Identifier: CA518651024

Gene: PHF6

Linked Data

• COSMIC: COSM144627
• MyVariant Identifiers: chrX:g.133547867del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413837del , CM000685.2:g.134413837del	GRCh38
NC_000023.10:g.133547867del , CM000685.1:g.133547867del	GRCh37
NC_000023.9:g.133375533del	NCBI36
NG_008886.1:g.45526del , LRG_629:g.45526del

Transcript Alleles

HGVS	Amino-acid change
ENST00000685553.1:c.*519del	ENSP00000510193.1:n.*519del
ENST00000687496.1:c.498del	ENSP00000509551.1:p.His167ThrfsTer17
ENST00000688598.1:c.498del	ENSP00000510410.1:p.His167ThrfsTer17
ENST00000691812.1:c.600del	ENSP00000510211.1:p.His201ThrfsTer17
ENST00000693759.1:c.*212del	ENSP00000509518.1:n.*212del
ENST00000370803.8:c.600del MANE Select	ENSP00000359839.4:p.His201ThrfsTer17
ENST00000332070.7:c.600del	ENSP00000329097.3:p.His201ThrfsTer17
ENST00000370799.5:c.603del	ENSP00000359835.1:p.His202ThrfsTer17
ENST00000370800.4:c.603del	ENSP00000359836.4:p.His202ThrfsTer17
ENST00000370803.7:c.600del	ENSP00000359839.3:p.His201ThrfsTer17
ENST00000625464.2:c.603del	ENSP00000487420.1:p.His202ThrfsTer17
NM_001015877.1:c.600del , LRG_629t1:c.600del	NP_001015877.1:p.His201ThrfsTer17
NM_032335.3:c.603del , LRG_629t2:c.603del	NP_115711.2:p.His202ThrfsTer17
NM_032458.2:c.600del	NP_115834.1:p.His201ThrfsTer17
NM_001015877.2:c.600del MANE Select	NP_001015877.1:p.His201ThrfsTer17
NM_032458.3:c.600del	NP_115834.1:p.His201ThrfsTer17