Canonical Allele Identifier: CA2694738255

Gene: PHF6

Linked Data

• gnomAD v4: X-134413733-TTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413738_134413740del , CM000685.2:g.134413738_134413740del	GRCh38
NC_000023.10:g.133547768_133547770del , CM000685.1:g.133547768_133547770del	GRCh37
NC_000023.9:g.133375434_133375436del	NCBI36
NG_008886.1:g.45427_45429del , LRG_629:g.45427_45429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*504+81_*505-83del	ENSP00000510193.1:n.*504+81_*505-83del
ENST00000687496.1:c.483+81_484-83del	ENSP00000509551.1:n.483+81_484-83del
ENST00000688598.1:c.483+81_484-83del	ENSP00000510410.1:n.483+81_484-83del
ENST00000691812.1:c.585+81_586-83del	ENSP00000510211.1:n.585+81_586-83del
ENST00000693759.1:c.*197+81_*198-83del	ENSP00000509518.1:n.*197+81_*198-83del
ENST00000370803.8:c.585+81_586-83del MANE Select	ENSP00000359839.4:n.585+81_586-83del
ENST00000332070.7:c.585+81_586-83del	ENSP00000329097.3:n.585+81_586-83del
ENST00000370799.5:c.588+81_589-83del	ENSP00000359835.1:n.588+81_589-83del
ENST00000370800.4:c.588+81_589-83del	ENSP00000359836.4:n.588+81_589-83del
ENST00000370803.7:c.585+81_586-83del	ENSP00000359839.3:n.585+81_586-83del
ENST00000625464.2:c.588+81_589-83del	ENSP00000487420.1:n.588+81_589-83del
NM_001015877.1:c.585+81_586-83del , LRG_629t1:c.585+81_586-83del	NP_001015877.1:n.585+81_586-83del
NM_032335.3:c.588+81_589-83del , LRG_629t2:c.588+81_589-83del	NP_115711.2:n.588+81_589-83del
NM_032458.2:c.585+81_586-83del	NP_115834.1:n.585+81_586-83del
NM_001015877.2:c.585+81_586-83del MANE Select	NP_001015877.1:n.585+81_586-83del
NM_032458.3:c.585+81_586-83del	NP_115834.1:n.585+81_586-83del