Canonical Allele Identifier: CA1089788160

Gene: PHF3 EYS

Linked Data

• dbSNP Id: rs1768331523
• gnomAD v3: 6-63720531-CAAAG-C
• gnomAD v4: 6-63720531-CAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720535_63720538del , CM000668.2:g.63720535_63720538del	GRCh38
NC_000006.11:g.64430431_64430434del , CM000668.1:g.64430431_64430434del	GRCh37
NC_000006.10:g.64488390_64488393del	NCBI36
NG_023443.1:g.1991688_1991691del
NG_023443.2:g.1991691_1991694del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6827_*6830del (PHF3) MANE Select	ENSP00000262043.4:n.*6827_*6830del
ENST00000503581.6:c.*61_*64del (EYS) MANE Select	ENSP00000424243.1:n.*61_*64del
ENST00000370621.7:c.*61_*64del (EYS)	ENSP00000359655.3:n.*61_*64del
ENST00000503581.5:c.*61_*64del (EYS)	ENSP00000424243.1:n.*61_*64del
ENST00000505138.1:c.363+9173_363+9176del (PHF3)
NM_001142800.1:c.*61_*64del (EYS)	NP_001136272.1:n.*61_*64del
NM_001292009.1:c.*61_*64del (EYS)	NP_001278938.1:n.*61_*64del
NM_001142800.2:c.*61_*64del (EYS) MANE Select	NP_001136272.1:n.*61_*64del
NM_001290259.2:c.*6827_*6830del (PHF3)	NP_001277188.1:n.*6827_*6830del
NM_001370348.2:c.*6827_*6830del (PHF3) MANE Select	NP_001357277.1:n.*6827_*6830del
NM_001370349.2:c.*6827_*6830del (PHF3)	NP_001357278.1:n.*6827_*6830del
NM_001370350.2:c.*6827_*6830del (PHF3)	NP_001357279.1:n.*6827_*6830del
NM_015153.4:c.*6827_*6830del (PHF3)	NP_055968.1:n.*6827_*6830del
NM_001292009.2:c.*61_*64del (EYS)	NP_001278938.1:n.*61_*64del