Canonical Allele Identifier: CA915944315

Gene: PHF3 EYS

Linked Data

• ClinVar Variation Id: 817982
• ClinVar RCV Id: RCV001009220
• dbSNP Id: rs1582139086

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720632_63720651del , CM000668.2:g.63720632_63720651del	GRCh38
NC_000006.11:g.64430528_64430547del , CM000668.1:g.64430528_64430547del	GRCh37
NC_000006.10:g.64488487_64488506del	NCBI36
NG_023443.1:g.1991572_1991591del
NG_023443.2:g.1991575_1991594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6924_*6943del (PHF3) MANE Select	ENSP00000262043.4:n.*6924_*6943del
ENST00000503581.6:c.9380_9399del (EYS) MANE Select	ENSP00000424243.1:p.Ile3127SerfsTer3
ENST00000370616.6:c.9443_9462del (EYS)	ENSP00000359650.2:p.Ile3148SerfsTer3
ENST00000370618.7:c.9380_9399del (EYS)	ENSP00000359652.4:p.Ile3127SerfsTer3
ENST00000370621.7:c.9443_9462del (EYS)	ENSP00000359655.3:p.Ile3148SerfsTer3
ENST00000503581.5:c.9380_9399del (EYS)	ENSP00000424243.1:p.Ile3127SerfsTer3
ENST00000505138.1:c.363+9270_363+9289del (PHF3)
NM_001142800.1:c.9380_9399del (EYS)	NP_001136272.1:p.Ile3127SerfsTer3
NM_001292009.1:c.9443_9462del (EYS)	NP_001278938.1:p.Ile3148SerfsTer3
NM_001142800.2:c.9380_9399del (EYS) MANE Select	NP_001136272.1:p.Ile3127SerfsTer3
NM_001290259.2:c.*6924_*6943del (PHF3)	NP_001277188.1:n.*6924_*6943del
NM_001370348.2:c.*6924_*6943del (PHF3) MANE Select	NP_001357277.1:n.*6924_*6943del
NM_001370349.2:c.*6924_*6943del (PHF3)	NP_001357278.1:n.*6924_*6943del
NM_001370350.2:c.*6924_*6943del (PHF3)	NP_001357279.1:n.*6924_*6943del
NM_015153.4:c.*6924_*6943del (PHF3)	NP_055968.1:n.*6924_*6943del
NM_001292009.2:c.9443_9462del (EYS)	NP_001278938.1:p.Ile3148SerfsTer3