Canonical Allele Identifier: CA2693828082

Gene: PHF8

Linked Data

• gnomAD v4: X-53985008-TGGCCGCTTGATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985017_53985028del , CM000685.2:g.53985017_53985028del	GRCh38
NC_000023.10:g.54011450_54011461del , CM000685.1:g.54011450_54011461del	GRCh37
NC_000023.9:g.54028175_54028186del	NCBI36
NG_021309.1:g.65117_65128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2034_2045del	ENSP00000340051.7:p.Ile679_Pro682del
ENST00000396282.7:c.2337_2348del	ENSP00000379578.3:p.Ile780_Pro783del
ENST00000686349.1:c.*792_*803del	ENSP00000510424.1:n.*792_*803del
ENST00000687764.1:c.*1779_*1790del	ENSP00000509967.1:n.*1779_*1790del
ENST00000691629.1:n.1701_1712del
ENST00000338154.11:c.2337_2348del MANE Select	ENSP00000338868.6:p.Ile780_Pro783del
ENST00000322659.12:c.2286_2297del	ENSP00000319473.8:p.Ile763_Pro766del
ENST00000338154.10:c.2337_2348del	ENSP00000338868.6:p.Ile780_Pro783del
ENST00000338946.10:c.2034_2045del	ENSP00000340051.6:p.Ile679_Pro682del
ENST00000357988.9:c.2445_2456del	ENSP00000350676.5:p.Ile816_Pro819del
ENST00000396282.6:c.2048_2059del
ENST00000443302.5:c.1627_1638del
ENST00000615775.4:c.764_775del	ENSP00000482159.1:p.Pro255_Gly258del
NM_001184896.1:c.2445_2456del	NP_001171825.1:p.Ile816_Pro819del
NM_001184897.1:c.2034_2045del	NP_001171826.1:p.Ile679_Pro682del
NM_001184898.1:c.2286_2297del	NP_001171827.1:p.Ile763_Pro766del
NM_015107.2:c.2337_2348del	NP_055922.1:p.Ile780_Pro783del
XM_005261996.1:c.2445_2456del	XP_005262053.1:p.Ile816_Pro819del
XM_005261997.2:c.2337_2348del	XP_005262054.1:p.Ile780_Pro783del
XM_005261999.1:c.2337_2348del	XP_005262056.1:p.Ile780_Pro783del
XM_005262000.1:c.2142_2153del	XP_005262057.1:p.Ile715_Pro718del
XM_006724585.1:c.2445_2456del	XP_006724648.1:p.Ile816_Pro819del
XM_011530778.1:c.2445_2456del	XP_011529080.1:p.Ile816_Pro819del
XM_005261997.4:c.2337_2348del	XP_005262054.1:p.Ile780_Pro783del
XM_017029361.2:c.2337_2348del	XP_016884850.1:p.Ile780_Pro783del
XM_017029362.2:c.2337_2348del	XP_016884851.1:p.Ile780_Pro783del
NM_001184898.2:c.2286_2297del	NP_001171827.1:p.Ile763_Pro766del
NM_015107.3:c.2337_2348del MANE Select	NP_055922.1:p.Ile780_Pro783del
NM_001184897.2:c.2034_2045del	NP_001171826.1:p.Ile679_Pro682del