Canonical Allele Identifier: CA2679279839

Gene: PHF3 EYS

Linked Data

• gnomAD v4: 6-63720546-CAAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720549_63720553del , CM000668.2:g.63720549_63720553del	GRCh38
NC_000006.11:g.64430445_64430449del , CM000668.1:g.64430445_64430449del	GRCh37
NC_000006.10:g.64488404_64488408del	NCBI36
NG_023443.1:g.1991672_1991676del
NG_023443.2:g.1991675_1991679del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6841_*6845del (PHF3) MANE Select	ENSP00000262043.4:n.*6841_*6845del
ENST00000503581.6:c.*45_*49del (EYS) MANE Select	ENSP00000424243.1:n.*45_*49del
ENST00000370621.7:c.*45_*49del (EYS)	ENSP00000359655.3:n.*45_*49del
ENST00000503581.5:c.*45_*49del (EYS)	ENSP00000424243.1:n.*45_*49del
ENST00000505138.1:c.363+9187_363+9191del (PHF3)
NM_001142800.1:c.*45_*49del (EYS)	NP_001136272.1:n.*45_*49del
NM_001292009.1:c.*45_*49del (EYS)	NP_001278938.1:n.*45_*49del
NM_001142800.2:c.*45_*49del (EYS) MANE Select	NP_001136272.1:n.*45_*49del
NM_001290259.2:c.*6841_*6845del (PHF3)	NP_001277188.1:n.*6841_*6845del
NM_001370348.2:c.*6841_*6845del (PHF3) MANE Select	NP_001357277.1:n.*6841_*6845del
NM_001370349.2:c.*6841_*6845del (PHF3)	NP_001357278.1:n.*6841_*6845del
NM_001370350.2:c.*6841_*6845del (PHF3)	NP_001357279.1:n.*6841_*6845del
NM_015153.4:c.*6841_*6845del (PHF3)	NP_055968.1:n.*6841_*6845del
NM_001292009.2:c.*45_*49del (EYS)	NP_001278938.1:n.*45_*49del