Canonical Allele Identifier: CA1633380462

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720531_63720535delinsCAAAG , CM000668.2:g.63720531_63720535delinsCAAAG	GRCh38
NC_000006.11:g.64430427_64430431delinsCAAAG , CM000668.1:g.64430427_64430431delinsCAAAG	GRCh37
NC_000006.10:g.64488386_64488390delinsCAAAG	NCBI36
NG_023443.1:g.1991688_1991692delinsCTTTG
NG_023443.2:g.1991691_1991695delinsCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6823_*6827delinsCAAAG (PHF3) MANE Select	ENSP00000262043.4:n.*6823_*6827delinsCAAAG
ENST00000503581.6:c.*61_*65delinsCTTTG (EYS) MANE Select	ENSP00000424243.1:n.*61_*65delinsCTTTG
ENST00000370621.7:c.*61_*65delinsCTTTG (EYS)	ENSP00000359655.3:n.*61_*65delinsCTTTG
ENST00000503581.5:c.*61_*65delinsCTTTG (EYS)	ENSP00000424243.1:n.*61_*65delinsCTTTG
ENST00000505138.1:c.363+9169_363+9173delinsCAAAG (PHF3)
NM_001142800.1:c.*61_*65delinsCTTTG (EYS)	NP_001136272.1:n.*61_*65delinsCTTTG
NM_001292009.1:c.*61_*65delinsCTTTG (EYS)	NP_001278938.1:n.*61_*65delinsCTTTG
NM_001142800.2:c.*61_*65delinsCTTTG (EYS) MANE Select	NP_001136272.1:n.*61_*65delinsCTTTG
NM_001290259.2:c.*6823_*6827delinsCAAAG (PHF3)	NP_001277188.1:n.*6823_*6827delinsCAAAG
NM_001370348.2:c.*6823_*6827delinsCAAAG (PHF3) MANE Select	NP_001357277.1:n.*6823_*6827delinsCAAAG
NM_001370349.2:c.*6823_*6827delinsCAAAG (PHF3)	NP_001357278.1:n.*6823_*6827delinsCAAAG
NM_001370350.2:c.*6823_*6827delinsCAAAG (PHF3)	NP_001357279.1:n.*6823_*6827delinsCAAAG
NM_015153.4:c.*6823_*6827delinsCAAAG (PHF3)	NP_055968.1:n.*6823_*6827delinsCAAAG
NM_001292009.2:c.*61_*65delinsCTTTG (EYS)	NP_001278938.1:n.*61_*65delinsCTTTG