Canonical Allele Identifier: CA2555608356

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721365_63721366insTG , CM000668.2:g.63721365_63721366insTG	GRCh38
NC_000006.11:g.64431261_64431262insTG , CM000668.1:g.64431261_64431262insTG	GRCh37
NC_000006.10:g.64489220_64489221insTG	NCBI36
NG_023443.1:g.1990857_1990858insCA
NG_023443.2:g.1990860_1990861insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7657_*7658insTG (PHF3) MANE Select	ENSP00000262043.4:n.*7657_*7658insTG
ENST00000503581.6:c.8665_8666insCA (EYS) MANE Select	ENSP00000424243.1:p.Glu2889AlafsTer5
ENST00000370616.6:c.8728_8729insCA (EYS)	ENSP00000359650.2:p.Glu2910AlafsTer5
ENST00000370618.7:c.8665_8666insCA (EYS)	ENSP00000359652.4:p.Glu2889AlafsTer5
ENST00000370621.7:c.8728_8729insCA (EYS)	ENSP00000359655.3:p.Glu2910AlafsTer5
ENST00000503581.5:c.8665_8666insCA (EYS)	ENSP00000424243.1:p.Glu2889AlafsTer5
ENST00000505138.1:c.363+10003_363+10004insTG (PHF3)
NM_001142800.1:c.8665_8666insCA (EYS)	NP_001136272.1:p.Glu2889AlafsTer5
NM_001292009.1:c.8728_8729insCA (EYS)	NP_001278938.1:p.Glu2910AlafsTer5
NM_001142800.2:c.8665_8666insCA (EYS) MANE Select	NP_001136272.1:p.Glu2889AlafsTer5
NM_001290259.2:c.*7657_*7658insTG (PHF3)	NP_001277188.1:n.*7657_*7658insTG
NM_001370348.2:c.*7657_*7658insTG (PHF3) MANE Select	NP_001357277.1:n.*7657_*7658insTG
NM_001370349.2:c.*7657_*7658insTG (PHF3)	NP_001357278.1:n.*7657_*7658insTG
NM_001370350.2:c.*7657_*7658insTG (PHF3)	NP_001357279.1:n.*7657_*7658insTG
NM_015153.4:c.*7657_*7658insTG (PHF3)	NP_055968.1:n.*7657_*7658insTG
NM_001292009.2:c.8728_8729insCA (EYS)	NP_001278938.1:p.Glu2910AlafsTer5