Canonical Allele Identifier: CA2430030657

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53984971_53984974delinsTCTC , CM000685.2:g.53984971_53984974delinsTCTC	GRCh38
NC_000023.10:g.54011404_54011407delinsTCTC , CM000685.1:g.54011404_54011407delinsTCTC	GRCh37
NC_000023.9:g.54028129_54028132delinsTCTC	NCBI36
NG_021309.1:g.65163_65166delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2080_2083delinsGAGA	ENSP00000340051.7:p.Glu694=
ENST00000396282.7:c.2383_2386delinsGAGA	ENSP00000379578.3:p.Glu795=
ENST00000686349.1:c.*838_*841delinsGAGA	ENSP00000510424.1:n.*838_*841delinsGAGA
ENST00000687764.1:c.*1825_*1828delinsGAGA	ENSP00000509967.1:n.*1825_*1828delinsGAGA
ENST00000691629.1:n.1747_1750delinsGAGA
ENST00000338154.11:c.2383_2386delinsGAGA MANE Select	ENSP00000338868.6:p.Glu795=
ENST00000322659.12:c.2332_2335delinsGAGA	ENSP00000319473.8:p.Glu778=
ENST00000338154.10:c.2383_2386delinsGAGA	ENSP00000338868.6:p.Glu795=
ENST00000338946.10:c.2080_2083delinsGAGA	ENSP00000340051.6:p.Glu694=
ENST00000357988.9:c.2491_2494delinsGAGA	ENSP00000350676.5:p.Glu831=
ENST00000396282.6:c.2094_2097delinsGAGA
ENST00000443302.5:c.1673_1676delinsGAGA
ENST00000615775.4:c.810_813delinsGAGA	ENSP00000482159.1:p.Arg270=
NM_001184896.1:c.2491_2494delinsGAGA	NP_001171825.1:p.Glu831=
NM_001184897.1:c.2080_2083delinsGAGA	NP_001171826.1:p.Glu694=
NM_001184898.1:c.2332_2335delinsGAGA	NP_001171827.1:p.Glu778=
NM_015107.2:c.2383_2386delinsGAGA	NP_055922.1:p.Glu795=
XM_005261996.1:c.2491_2494delinsGAGA	XP_005262053.1:p.Glu831=
XM_005261997.2:c.2383_2386delinsGAGA	XP_005262054.1:p.Glu795=
XM_005261999.1:c.2383_2386delinsGAGA	XP_005262056.1:p.Glu795=
XM_005262000.1:c.2188_2191delinsGAGA	XP_005262057.1:p.Glu730=
XM_006724585.1:c.2491_2494delinsGAGA	XP_006724648.1:p.Glu831=
XM_011530778.1:c.2491_2494delinsGAGA	XP_011529080.1:p.Glu831=
XM_005261997.4:c.2383_2386delinsGAGA	XP_005262054.1:p.Glu795=
XM_017029361.2:c.2383_2386delinsGAGA	XP_016884850.1:p.Glu795=
XM_017029362.2:c.2383_2386delinsGAGA	XP_016884851.1:p.Glu795=
NM_001184898.2:c.2332_2335delinsGAGA	NP_001171827.1:p.Glu778=
NM_015107.3:c.2383_2386delinsGAGA MANE Select	NP_055922.1:p.Glu795=
NM_001184897.2:c.2080_2083delinsGAGA	NP_001171826.1:p.Glu694=