Canonical Allele Identifier: CA1633380640

Gene: PHF3 EYS

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.63720659_63720665delinsAATGTTT , CM000668.2:g.63720659_63720665delinsAATGTTT	GRCh38
NC_000006.11:g.64430555_64430561delinsAATGTTT , CM000668.1:g.64430555_64430561delinsAATGTTT	GRCh37
NC_000006.10:g.64488514_64488520delinsAATGTTT	NCBI36
NG_023443.1:g.1991558_1991564delinsAAACATT
NG_023443.2:g.1991561_1991567delinsAAACATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262043.8:c.*6951_*6957delinsAATGTTT (PHF3) MANE Select	ENSP00000262043.4:n.*6951_*6957delinsAATGTTT
ENST00000503581.6:c.9366_9372delinsAAACATT (EYS) MANE Select	ENSP00000424243.1:p.Lys3122=
ENST00000370616.6:c.9429_9435delinsAAACATT (EYS)	ENSP00000359650.2:p.Lys3143=
ENST00000370618.7:c.9366_9372delinsAAACATT (EYS)	ENSP00000359652.4:p.Lys3122=
ENST00000370621.7:c.9429_9435delinsAAACATT (EYS)	ENSP00000359655.3:p.Lys3143=
ENST00000503581.5:c.9366_9372delinsAAACATT (EYS)	ENSP00000424243.1:p.Lys3122=
ENST00000505138.1:c.363+9297_363+9303delinsAATGTTT (PHF3)
NM_001142800.1:c.9366_9372delinsAAACATT (EYS)	NP_001136272.1:p.Lys3122=
NM_001292009.1:c.9429_9435delinsAAACATT (EYS)	NP_001278938.1:p.Lys3143=
NM_001142800.2:c.9366_9372delinsAAACATT (EYS) MANE Select	NP_001136272.1:p.Lys3122=
NM_001290259.2:c.*6951_*6957delinsAATGTTT (PHF3)	NP_001277188.1:n.*6951_*6957delinsAATGTTT
NM_001370348.2:c.*6951_*6957delinsAATGTTT (PHF3) MANE Select	NP_001357277.1:n.*6951_*6957delinsAATGTTT
NM_001370349.2:c.*6951_*6957delinsAATGTTT (PHF3)	NP_001357278.1:n.*6951_*6957delinsAATGTTT
NM_001370350.2:c.*6951_*6957delinsAATGTTT (PHF3)	NP_001357279.1:n.*6951_*6957delinsAATGTTT
NM_015153.4:c.*6951_*6957delinsAATGTTT (PHF3)	NP_055968.1:n.*6951_*6957delinsAATGTTT
NM_001292009.2:c.9429_9435delinsAAACATT (EYS)	NP_001278938.1:p.Lys3143=