Canonical Allele Identifier: CA2679279889

Gene: PHF3 EYS

Linked Data

• gnomAD v4: 6-63721335-C-CTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63721335_63721336insTCT , CM000668.2:g.63721335_63721336insTCT	GRCh38
NC_000006.11:g.64431231_64431232insTCT , CM000668.1:g.64431231_64431232insTCT	GRCh37
NC_000006.10:g.64489190_64489191insTCT	NCBI36
NG_023443.1:g.1990887_1990888insAGA
NG_023443.2:g.1990890_1990891insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*7627_*7628insTCT (PHF3) MANE Select	ENSP00000262043.4:n.*7627_*7628insTCT
ENST00000503581.6:c.8695_8696insAGA (EYS) MANE Select	ENSP00000424243.1:p.Cys2899Ter
ENST00000370616.6:c.8758_8759insAGA (EYS)	ENSP00000359650.2:p.Cys2920Ter
ENST00000370618.7:c.8695_8696insAGA (EYS)	ENSP00000359652.4:p.Cys2899Ter
ENST00000370621.7:c.8758_8759insAGA (EYS)	ENSP00000359655.3:p.Cys2920Ter
ENST00000503581.5:c.8695_8696insAGA (EYS)	ENSP00000424243.1:p.Cys2899Ter
ENST00000505138.1:c.363+9973_363+9974insTCT (PHF3)
NM_001142800.1:c.8695_8696insAGA (EYS)	NP_001136272.1:p.Cys2899Ter
NM_001292009.1:c.8758_8759insAGA (EYS)	NP_001278938.1:p.Cys2920Ter
NM_001142800.2:c.8695_8696insAGA (EYS) MANE Select	NP_001136272.1:p.Cys2899Ter
NM_001290259.2:c.*7627_*7628insTCT (PHF3)	NP_001277188.1:n.*7627_*7628insTCT
NM_001370348.2:c.*7627_*7628insTCT (PHF3) MANE Select	NP_001357277.1:n.*7627_*7628insTCT
NM_001370349.2:c.*7627_*7628insTCT (PHF3)	NP_001357278.1:n.*7627_*7628insTCT
NM_001370350.2:c.*7627_*7628insTCT (PHF3)	NP_001357279.1:n.*7627_*7628insTCT
NM_015153.4:c.*7627_*7628insTCT (PHF3)	NP_055968.1:n.*7627_*7628insTCT
NM_001292009.2:c.8758_8759insAGA (EYS)	NP_001278938.1:p.Cys2920Ter