Canonical Allele Identifier: CA2579619386

Gene: PHF8

Linked Data

• gnomAD v4: X-53985218-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985222del , CM000685.2:g.53985222del	GRCh38
NC_000023.10:g.54011655del , CM000685.1:g.54011655del	GRCh37
NC_000023.9:g.54028380del	NCBI36
NG_021309.1:g.64918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1835del	ENSP00000340051.7:p.Pro612GlnfsTer?
ENST00000396282.7:c.2138del	ENSP00000379578.3:p.Pro713GlnfsTer?
ENST00000686349.1:c.*593del	ENSP00000510424.1:n.*593del
ENST00000687764.1:c.*1580del	ENSP00000509967.1:n.*1580del
ENST00000691629.1:n.1502del
ENST00000338154.11:c.2138del MANE Select	ENSP00000338868.6:p.Pro713GlnfsTer?
ENST00000322659.12:c.2087del	ENSP00000319473.8:p.Pro696GlnfsTer?
ENST00000338154.10:c.2138del	ENSP00000338868.6:p.Pro713GlnfsTer?
ENST00000338946.10:c.1835del	ENSP00000340051.6:p.Pro612GlnfsTer?
ENST00000357988.9:c.2246del	ENSP00000350676.5:p.Pro749GlnfsTer?
ENST00000396282.6:c.1849del
ENST00000443302.5:c.1428del
ENST00000615775.4:c.565del	ENSP00000482159.1:p.Gln189SerfsTer29
NM_001184896.1:c.2246del	NP_001171825.1:p.Pro749GlnfsTer?
NM_001184897.1:c.1835del	NP_001171826.1:p.Pro612GlnfsTer?
NM_001184898.1:c.2087del	NP_001171827.1:p.Pro696GlnfsTer?
NM_015107.2:c.2138del	NP_055922.1:p.Pro713GlnfsTer?
XM_005261996.1:c.2246del	XP_005262053.1:p.Pro749GlnfsTer?
XM_005261997.2:c.2138del	XP_005262054.1:p.Pro713GlnfsTer?
XM_005261999.1:c.2138del	XP_005262056.1:p.Pro713GlnfsTer?
XM_005262000.1:c.1943del	XP_005262057.1:p.Pro648GlnfsTer?
XM_006724585.1:c.2246del	XP_006724648.1:p.Pro749GlnfsTer?
XM_011530778.1:c.2246del	XP_011529080.1:p.Pro749GlnfsTer?
XM_005261997.4:c.2138del	XP_005262054.1:p.Pro713GlnfsTer?
XM_017029361.2:c.2138del	XP_016884850.1:p.Pro713GlnfsTer?
XM_017029362.2:c.2138del	XP_016884851.1:p.Pro713GlnfsTer?
NM_001184898.2:c.2087del	NP_001171827.1:p.Pro696GlnfsTer?
NM_015107.3:c.2138del MANE Select	NP_055922.1:p.Pro713GlnfsTer?
NM_001184897.2:c.1835del	NP_001171826.1:p.Pro612GlnfsTer?