Canonical Allele Identifier: CA2504698354

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721352_63721353insCCG , CM000668.2:g.63721352_63721353insCCG	GRCh38
NC_000006.11:g.64431248_64431249insCCG , CM000668.1:g.64431248_64431249insCCG	GRCh37
NC_000006.10:g.64489207_64489208insCCG	NCBI36
NG_023443.1:g.1990870_1990871insCGG
NG_023443.2:g.1990873_1990874insCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7644_*7645insCCG (PHF3) MANE Select	ENSP00000262043.4:n.*7644_*7645insCCG
ENST00000503581.6:c.8678_8679insCGG (EYS) MANE Select	ENSP00000424243.1:p.Asn2893_Gly2894insGly
ENST00000370616.6:c.8741_8742insCGG (EYS)	ENSP00000359650.2:p.Asn2914_Gly2915insGly
ENST00000370618.7:c.8678_8679insCGG (EYS)	ENSP00000359652.4:p.Asn2893_Gly2894insGly
ENST00000370621.7:c.8741_8742insCGG (EYS)	ENSP00000359655.3:p.Asn2914_Gly2915insGly
ENST00000503581.5:c.8678_8679insCGG (EYS)	ENSP00000424243.1:p.Asn2893_Gly2894insGly
ENST00000505138.1:c.363+9990_363+9991insCCG (PHF3)
NM_001142800.1:c.8678_8679insCGG (EYS)	NP_001136272.1:p.Asn2893_Gly2894insGly
NM_001292009.1:c.8741_8742insCGG (EYS)	NP_001278938.1:p.Asn2914_Gly2915insGly
NM_001142800.2:c.8678_8679insCGG (EYS) MANE Select	NP_001136272.1:p.Asn2893_Gly2894insGly
NM_001290259.2:c.*7644_*7645insCCG (PHF3)	NP_001277188.1:n.*7644_*7645insCCG
NM_001370348.2:c.*7644_*7645insCCG (PHF3) MANE Select	NP_001357277.1:n.*7644_*7645insCCG
NM_001370349.2:c.*7644_*7645insCCG (PHF3)	NP_001357278.1:n.*7644_*7645insCCG
NM_001370350.2:c.*7644_*7645insCCG (PHF3)	NP_001357279.1:n.*7644_*7645insCCG
NM_015153.4:c.*7644_*7645insCCG (PHF3)	NP_055968.1:n.*7644_*7645insCCG
NM_001292009.2:c.8741_8742insCGG (EYS)	NP_001278938.1:p.Asn2914_Gly2915insGly