Canonical Allele Identifier: CA2739289895

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721456_63721461del , CM000668.2:g.63721456_63721461del	GRCh38
NC_000006.11:g.64431352_64431357del , CM000668.1:g.64431352_64431357del	GRCh37
NC_000006.10:g.64489311_64489316del	NCBI36
NG_023443.1:g.1990767_1990772del
NG_023443.2:g.1990770_1990775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7748_*7753del (PHF3) MANE Select	ENSP00000262043.4:n.*7748_*7753del
ENST00000503581.6:c.8575_8580del (EYS) MANE Select	ENSP00000424243.1:p.Gln2859_Leu2860del
ENST00000370616.6:c.8638_8643del (EYS)	ENSP00000359650.2:p.Gln2880_Leu2881del
ENST00000370618.7:c.8575_8580del (EYS)	ENSP00000359652.4:p.Gln2859_Leu2860del
ENST00000370621.7:c.8638_8643del (EYS)	ENSP00000359655.3:p.Gln2880_Leu2881del
ENST00000503581.5:c.8575_8580del (EYS)	ENSP00000424243.1:p.Gln2859_Leu2860del
ENST00000505138.1:c.363+10094_363+10099del (PHF3)
NM_001142800.1:c.8575_8580del (EYS)	NP_001136272.1:p.Gln2859_Leu2860del
NM_001292009.1:c.8638_8643del (EYS)	NP_001278938.1:p.Gln2880_Leu2881del
NM_001142800.2:c.8575_8580del (EYS) MANE Select	NP_001136272.1:p.Gln2859_Leu2860del
NM_001290259.2:c.*7748_*7753del (PHF3)	NP_001277188.1:n.*7748_*7753del
NM_001370348.2:c.*7748_*7753del (PHF3) MANE Select	NP_001357277.1:n.*7748_*7753del
NM_001370349.2:c.*7748_*7753del (PHF3)	NP_001357278.1:n.*7748_*7753del
NM_001370350.2:c.*7748_*7753del (PHF3)	NP_001357279.1:n.*7748_*7753del
NM_015153.4:c.*7748_*7753del (PHF3)	NP_055968.1:n.*7748_*7753del
NM_001292009.2:c.8638_8643del (EYS)	NP_001278938.1:p.Gln2880_Leu2881del