Canonical Allele Identifier: CA641891493

Gene: PHF8

Linked Data

• gnomAD v2: X-54040771-CA-C
• gnomAD v4: X-54014338-CA-C
• MyVariant Identifiers: chrX:g.54040772del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54014340del , CM000685.2:g.54014340del	GRCh38
NC_000023.10:g.54040773del , CM000685.1:g.54040773del	GRCh37
NC_000023.9:g.54057498del	NCBI36
NG_021309.1:g.35798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.783+38del	ENSP00000340051.7:n.783+38del
ENST00000396282.7:c.783+38del	ENSP00000379578.3:n.783+38del
ENST00000686349.1:c.783+38del	ENSP00000510424.1:n.783+38del
ENST00000687764.1:c.783+38del	ENSP00000509967.1:n.783+38del
ENST00000691629.1:n.148-3055del
ENST00000338154.11:c.783+38del MANE Select	ENSP00000338868.6:n.783+38del
ENST00000322659.12:c.783+38del	ENSP00000319473.8:n.783+38del
ENST00000338154.10:c.783+38del	ENSP00000338868.6:n.783+38del
ENST00000338946.10:c.783+38del	ENSP00000340051.6:n.783+38del
ENST00000357988.9:c.891+38del	ENSP00000350676.5:n.891+38del
ENST00000396282.6:c.494+38del
ENST00000443302.5:c.73+38del
ENST00000490635.1:n.117+38del
ENST00000615775.4:c.-790+38del	ENSP00000482159.1:n.-790+38del
NM_001184896.1:c.891+38del	NP_001171825.1:n.891+38del
NM_001184897.1:c.783+38del	NP_001171826.1:n.783+38del
NM_001184898.1:c.783+38del	NP_001171827.1:n.783+38del
NM_015107.2:c.783+38del	NP_055922.1:n.783+38del
XM_005261996.1:c.891+38del	XP_005262053.1:n.891+38del
XM_005261997.2:c.783+38del	XP_005262054.1:n.783+38del
XM_005261999.1:c.783+38del	XP_005262056.1:n.783+38del
XM_005262000.1:c.891+38del	XP_005262057.1:n.891+38del
XM_006724585.1:c.891+38del	XP_006724648.1:n.891+38del
XM_011530778.1:c.891+38del	XP_011529080.1:n.891+38del
XM_005261997.4:c.783+38del	XP_005262054.1:n.783+38del
XM_017029361.2:c.783+38del	XP_016884850.1:n.783+38del
XM_017029362.2:c.783+38del	XP_016884851.1:n.783+38del
NM_001184898.2:c.783+38del	NP_001171827.1:n.783+38del
NM_015107.3:c.783+38del MANE Select	NP_055922.1:n.783+38del
NM_001184897.2:c.783+38del	NP_001171826.1:n.783+38del