Canonical Allele Identifier: CA336029326

Gene: PHF6

Linked Data

• dbSNP Id: rs769765136
• gnomAD v2: X-133547746-ACTAT-A
• gnomAD v3: X-134413716-ACTAT-A
• gnomAD v4: X-134413716-ACTAT-A
• MyVariant Identifiers: chrX:g.133547747_133547750del (hg19) ; chrX:g.134413717_134413720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413721_134413724del , CM000685.2:g.134413721_134413724del	GRCh38
NC_000023.10:g.133547751_133547754del , CM000685.1:g.133547751_133547754del	GRCh37
NC_000023.9:g.133375417_133375420del	NCBI36
NG_008886.1:g.45410_45413del , LRG_629:g.45410_45413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*504+64_*504+67del	ENSP00000510193.1:n.*504+64_*504+67del
ENST00000687496.1:c.483+64_483+67del	ENSP00000509551.1:n.483+64_483+67del
ENST00000688598.1:c.483+64_483+67del	ENSP00000510410.1:n.483+64_483+67del
ENST00000691812.1:c.585+64_585+67del	ENSP00000510211.1:n.585+64_585+67del
ENST00000693759.1:c.*197+64_*197+67del	ENSP00000509518.1:n.*197+64_*197+67del
ENST00000370803.8:c.585+64_585+67del MANE Select	ENSP00000359839.4:n.585+64_585+67del
ENST00000332070.7:c.585+64_585+67del	ENSP00000329097.3:n.585+64_585+67del
ENST00000370799.5:c.588+64_588+67del	ENSP00000359835.1:n.588+64_588+67del
ENST00000370800.4:c.588+64_588+67del	ENSP00000359836.4:n.588+64_588+67del
ENST00000370803.7:c.585+64_585+67del	ENSP00000359839.3:n.585+64_585+67del
ENST00000625464.2:c.588+64_588+67del	ENSP00000487420.1:n.588+64_588+67del
NM_001015877.1:c.585+64_585+67del , LRG_629t1:c.585+64_585+67del	NP_001015877.1:n.585+64_585+67del
NM_032335.3:c.588+64_588+67del , LRG_629t2:c.588+64_588+67del	NP_115711.2:n.588+64_588+67del
NM_032458.2:c.585+64_585+67del	NP_115834.1:n.585+64_585+67del
NM_001015877.2:c.585+64_585+67del MANE Select	NP_001015877.1:n.585+64_585+67del
NM_032458.3:c.585+64_585+67del	NP_115834.1:n.585+64_585+67del