Canonical Allele Identifier: CA2771457313

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720684_63720685insAGT , CM000668.2:g.63720684_63720685insAGT	GRCh38
NC_000006.11:g.64430580_64430581insAGT , CM000668.1:g.64430580_64430581insAGT	GRCh37
NC_000006.10:g.64488539_64488540insAGT	NCBI36
NG_023443.1:g.1991538_1991539insACT
NG_023443.2:g.1991541_1991542insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6976_*6977insAGT (PHF3) MANE Select	ENSP00000262043.4:n.*6976_*6977insAGT
ENST00000503581.6:c.9346_9347insACT (EYS) MANE Select	ENSP00000424243.1:p.Val3116delinsAspLeu
ENST00000370616.6:c.9409_9410insACT (EYS)	ENSP00000359650.2:p.Val3137delinsAspLeu
ENST00000370618.7:c.9346_9347insACT (EYS)	ENSP00000359652.4:p.Val3116delinsAspLeu
ENST00000370621.7:c.9409_9410insACT (EYS)	ENSP00000359655.3:p.Val3137delinsAspLeu
ENST00000503581.5:c.9346_9347insACT (EYS)	ENSP00000424243.1:p.Val3116delinsAspLeu
ENST00000505138.1:c.363+9322_363+9323insAGT (PHF3)
NM_001142800.1:c.9346_9347insACT (EYS)	NP_001136272.1:p.Val3116delinsAspLeu
NM_001292009.1:c.9409_9410insACT (EYS)	NP_001278938.1:p.Val3137delinsAspLeu
NM_001142800.2:c.9346_9347insACT (EYS) MANE Select	NP_001136272.1:p.Val3116delinsAspLeu
NM_001290259.2:c.*6976_*6977insAGT (PHF3)	NP_001277188.1:n.*6976_*6977insAGT
NM_001370348.2:c.*6976_*6977insAGT (PHF3) MANE Select	NP_001357277.1:n.*6976_*6977insAGT
NM_001370349.2:c.*6976_*6977insAGT (PHF3)	NP_001357278.1:n.*6976_*6977insAGT
NM_001370350.2:c.*6976_*6977insAGT (PHF3)	NP_001357279.1:n.*6976_*6977insAGT
NM_015153.4:c.*6976_*6977insAGT (PHF3)	NP_055968.1:n.*6976_*6977insAGT
NM_001292009.2:c.9409_9410insACT (EYS)	NP_001278938.1:p.Val3137delinsAspLeu