Canonical Allele Identifier: CA2694738265

Gene: PHF6

Linked Data

• gnomAD v4: X-134413968-T-TTTTCTTCTGGCACAGTCCAGCTCACAACAACATC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413968_134413969insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC , CM000685.2:g.134413968_134413969insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	GRCh38
NC_000023.10:g.133547998_133547999insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC , CM000685.1:g.133547998_133547999insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	GRCh37
NC_000023.9:g.133375664_133375665insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	NCBI36
NG_008886.1:g.45657_45658insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC , LRG_629:g.45657_45658insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*648+2_*648+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000510193.1:n.*648+2_*648+3insTTTCTTCTGGCACAGTCCAGCTCAC...
ENST00000687496.1:c.627+2_627+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000509551.1:n.627+2_627+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000688598.1:c.627+2_627+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000510410.1:n.627+2_627+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000691812.1:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000510211.1:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000693759.1:c.*341+2_*341+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000509518.1:n.*341+2_*341+3insTTTCTTCTGGCACAGTCCAGCTCAC...
ENST00000370803.8:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC MANE Select	ENSP00000359839.4:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000332070.7:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000329097.3:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000370799.5:c.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000359835.1:n.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000370800.4:c.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000359836.4:n.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000370803.7:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000359839.3:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
ENST00000625464.2:c.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	ENSP00000487420.1:n.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAA...
NM_001015877.1:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC , LRG_629t1:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	NP_001015877.1:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAA...
NM_032335.3:c.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC , LRG_629t2:c.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	NP_115711.2:n.732+2_732+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACAT...
NM_032458.2:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	NP_115834.1:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACAT...
NM_001015877.2:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC MANE Select	NP_001015877.1:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAA...
NM_032458.3:c.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACATC	NP_115834.1:n.729+2_729+3insTTTCTTCTGGCACAGTCCAGCTCACAACAACAT...