Canonical Allele Identifier: CA2459717464

Gene: PHF6

Linked Data

• dbSNP Id: rs2077461512

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134413918_134413919insAAAT , CM000685.2:g.134413918_134413919insAAAT	GRCh38
NC_000023.10:g.133547948_133547949insAAAT , CM000685.1:g.133547948_133547949insAAAT	GRCh37
NC_000023.9:g.133375614_133375615insAAAT	NCBI36
NG_008886.1:g.45607_45608insAAAT , LRG_629:g.45607_45608insAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685553.1:c.*600_*601insAAAT	ENSP00000510193.1:n.*600_*601insAAAT
ENST00000687496.1:c.579_580insAAAT	ENSP00000509551.1:p.Leu194LysfsTer6
ENST00000688598.1:c.579_580insAAAT	ENSP00000510410.1:p.Leu194LysfsTer6
ENST00000691812.1:c.681_682insAAAT	ENSP00000510211.1:p.Leu228LysfsTer6
ENST00000693759.1:c.*293_*294insAAAT	ENSP00000509518.1:n.*293_*294insAAAT
ENST00000370803.8:c.681_682insAAAT MANE Select	ENSP00000359839.4:p.Leu228LysfsTer6
ENST00000332070.7:c.681_682insAAAT	ENSP00000329097.3:p.Leu228LysfsTer6
ENST00000370799.5:c.684_685insAAAT	ENSP00000359835.1:p.Leu229LysfsTer6
ENST00000370800.4:c.684_685insAAAT	ENSP00000359836.4:p.Leu229LysfsTer6
ENST00000370803.7:c.681_682insAAAT	ENSP00000359839.3:p.Leu228LysfsTer6
ENST00000625464.2:c.684_685insAAAT	ENSP00000487420.1:p.Leu229LysfsTer6
NM_001015877.1:c.681_682insAAAT , LRG_629t1:c.681_682insAAAT	NP_001015877.1:p.Leu228LysfsTer6
NM_032335.3:c.684_685insAAAT , LRG_629t2:c.684_685insAAAT	NP_115711.2:p.Leu229LysfsTer6
NM_032458.2:c.681_682insAAAT	NP_115834.1:p.Leu228LysfsTer6
NM_001015877.2:c.681_682insAAAT MANE Select	NP_001015877.1:p.Leu228LysfsTer6
NM_032458.3:c.681_682insAAAT	NP_115834.1:p.Leu228LysfsTer6