Canonical Allele Identifier: CA1133221142

Gene: PHF8

Linked Data

• dbSNP Id: rs2065544240
• gnomAD v3: X-53985274-CAGAGTA-C
• gnomAD v4: X-53985274-CAGAGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985276_53985281del , CM000685.2:g.53985276_53985281del	GRCh38
NC_000023.10:g.54011709_54011714del , CM000685.1:g.54011709_54011714del	GRCh37
NC_000023.9:g.54028434_54028439del	NCBI36
NG_021309.1:g.64857_64862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1827-53_1827-48del	ENSP00000340051.7:n.1827-53_1827-48del
ENST00000396282.7:c.2130-53_2130-48del	ENSP00000379578.3:n.2130-53_2130-48del
ENST00000686349.1:c.*532_*537del	ENSP00000510424.1:n.*532_*537del
ENST00000687764.1:c.*1519_*1524del	ENSP00000509967.1:n.*1519_*1524del
ENST00000691629.1:n.1494-53_1494-48del
ENST00000338154.11:c.2130-53_2130-48del MANE Select	ENSP00000338868.6:n.2130-53_2130-48del
ENST00000322659.12:c.2079-53_2079-48del	ENSP00000319473.8:n.2079-53_2079-48del
ENST00000338154.10:c.2130-53_2130-48del	ENSP00000338868.6:n.2130-53_2130-48del
ENST00000338946.10:c.1827-53_1827-48del	ENSP00000340051.6:n.1827-53_1827-48del
ENST00000357988.9:c.2238-53_2238-48del	ENSP00000350676.5:n.2238-53_2238-48del
ENST00000396282.6:c.1841-53_1841-48del
ENST00000443302.5:c.1420-53_1420-48del
ENST00000615775.4:c.557-53_557-48del	ENSP00000482159.1:n.557-53_557-48del
NM_001184896.1:c.2238-53_2238-48del	NP_001171825.1:n.2238-53_2238-48del
NM_001184897.1:c.1827-53_1827-48del	NP_001171826.1:n.1827-53_1827-48del
NM_001184898.1:c.2079-53_2079-48del	NP_001171827.1:n.2079-53_2079-48del
NM_015107.2:c.2130-53_2130-48del	NP_055922.1:n.2130-53_2130-48del
XM_005261996.1:c.2238-53_2238-48del	XP_005262053.1:n.2238-53_2238-48del
XM_005261997.2:c.2130-53_2130-48del	XP_005262054.1:n.2130-53_2130-48del
XM_005261999.1:c.2130-53_2130-48del	XP_005262056.1:n.2130-53_2130-48del
XM_005262000.1:c.1935-53_1935-48del	XP_005262057.1:n.1935-53_1935-48del
XM_006724585.1:c.2238-53_2238-48del	XP_006724648.1:n.2238-53_2238-48del
XM_011530778.1:c.2238-53_2238-48del	XP_011529080.1:n.2238-53_2238-48del
XM_005261997.4:c.2130-53_2130-48del	XP_005262054.1:n.2130-53_2130-48del
XM_017029361.2:c.2130-53_2130-48del	XP_016884850.1:n.2130-53_2130-48del
XM_017029362.2:c.2130-53_2130-48del	XP_016884851.1:n.2130-53_2130-48del
NM_001184898.2:c.2079-53_2079-48del	NP_001171827.1:n.2079-53_2079-48del
NM_015107.3:c.2130-53_2130-48del MANE Select	NP_055922.1:n.2130-53_2130-48del
NM_001184897.2:c.1827-53_1827-48del	NP_001171826.1:n.1827-53_1827-48del