Canonical Allele Identifier: CA641895439

Gene: PHF8

Linked Data

• dbSNP Id: rs1557099236
• gnomAD v2: X-54011765-AGTGGGAGG-A
• gnomAD v3: X-53985332-AGTGGGAGG-A
• gnomAD v4: X-53985332-AGTGGGAGG-A
• MyVariant Identifiers: chrX:g.54011766_54011773del (hg19) ; chrX:g.53985333_53985340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985333_53985340del , CM000685.2:g.53985333_53985340del	GRCh38
NC_000023.10:g.54011766_54011773del , CM000685.1:g.54011766_54011773del	GRCh37
NC_000023.9:g.54028491_54028498del	NCBI36
NG_021309.1:g.64797_64804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1827-113_1827-106del	ENSP00000340051.7:n.1827-113_1827-106del
ENST00000396282.7:c.2130-113_2130-106del	ENSP00000379578.3:n.2130-113_2130-106del
ENST00000686349.1:c.*472_*479del	ENSP00000510424.1:n.*472_*479del
ENST00000687764.1:c.*1459_*1466del	ENSP00000509967.1:n.*1459_*1466del
ENST00000691629.1:n.1494-113_1494-106del
ENST00000338154.11:c.2130-113_2130-106del MANE Select	ENSP00000338868.6:n.2130-113_2130-106del
ENST00000322659.12:c.2079-113_2079-106del	ENSP00000319473.8:n.2079-113_2079-106del
ENST00000338154.10:c.2130-113_2130-106del	ENSP00000338868.6:n.2130-113_2130-106del
ENST00000338946.10:c.1827-113_1827-106del	ENSP00000340051.6:n.1827-113_1827-106del
ENST00000357988.9:c.2238-113_2238-106del	ENSP00000350676.5:n.2238-113_2238-106del
ENST00000396282.6:c.1841-113_1841-106del
ENST00000443302.5:c.1420-113_1420-106del
ENST00000615775.4:c.557-113_557-106del	ENSP00000482159.1:n.557-113_557-106del
NM_001184896.1:c.2238-113_2238-106del	NP_001171825.1:n.2238-113_2238-106del
NM_001184897.1:c.1827-113_1827-106del	NP_001171826.1:n.1827-113_1827-106del
NM_001184898.1:c.2079-113_2079-106del	NP_001171827.1:n.2079-113_2079-106del
NM_015107.2:c.2130-113_2130-106del	NP_055922.1:n.2130-113_2130-106del
XM_005261996.1:c.2238-113_2238-106del	XP_005262053.1:n.2238-113_2238-106del
XM_005261997.2:c.2130-113_2130-106del	XP_005262054.1:n.2130-113_2130-106del
XM_005261999.1:c.2130-113_2130-106del	XP_005262056.1:n.2130-113_2130-106del
XM_005262000.1:c.1935-113_1935-106del	XP_005262057.1:n.1935-113_1935-106del
XM_006724585.1:c.2238-113_2238-106del	XP_006724648.1:n.2238-113_2238-106del
XM_011530778.1:c.2238-113_2238-106del	XP_011529080.1:n.2238-113_2238-106del
XM_005261997.4:c.2130-113_2130-106del	XP_005262054.1:n.2130-113_2130-106del
XM_017029361.2:c.2130-113_2130-106del	XP_016884850.1:n.2130-113_2130-106del
XM_017029362.2:c.2130-113_2130-106del	XP_016884851.1:n.2130-113_2130-106del
NM_001184898.2:c.2079-113_2079-106del	NP_001171827.1:n.2079-113_2079-106del
NM_015107.3:c.2130-113_2130-106del MANE Select	NP_055922.1:n.2130-113_2130-106del
NM_001184897.2:c.1827-113_1827-106del	NP_001171826.1:n.1827-113_1827-106del