Canonical Allele Identifier: CA10423300

Gene: PHF8

Linked Data

• dbSNP Id: rs781810031
• ExAC: X:54011404 TCTC / T
• gnomAD v2: X-54011404-TCTC-T
• gnomAD v3: X-53984971-TCTC-T
• gnomAD v4: X-53984971-TCTC-T
• COSMIC: COSM1724608 ; COSM1724609 ; COSM1724610 ; COSM4714026
• MyVariant Identifiers: chrX:g.54011405_54011407del (hg19) ; chrX:g.53984972_53984974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53984984_53984986del , CM000685.2:g.53984984_53984986del	GRCh38
NC_000023.10:g.54011417_54011419del , CM000685.1:g.54011417_54011419del	GRCh37
NC_000023.9:g.54028142_54028144del	NCBI36
NG_021309.1:g.65163_65165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.2080_2082del	ENSP00000340051.7:p.Glu694del
ENST00000396282.7:c.2383_2385del	ENSP00000379578.3:p.Glu795del
ENST00000686349.1:c.*838_*840del	ENSP00000510424.1:n.*838_*840del
ENST00000687764.1:c.*1825_*1827del	ENSP00000509967.1:n.*1825_*1827del
ENST00000691629.1:n.1747_1749del
ENST00000338154.11:c.2383_2385del MANE Select	ENSP00000338868.6:p.Glu795del
ENST00000322659.12:c.2332_2334del	ENSP00000319473.8:p.Glu778del
ENST00000338154.10:c.2383_2385del	ENSP00000338868.6:p.Glu795del
ENST00000338946.10:c.2080_2082del	ENSP00000340051.6:p.Glu694del
ENST00000357988.9:c.2491_2493del	ENSP00000350676.5:p.Glu831del
ENST00000396282.6:c.2094_2096del
ENST00000443302.5:c.1673_1675del
ENST00000615775.4:c.810_812del	ENSP00000482159.1:p.Arg271del
NM_001184896.1:c.2491_2493del	NP_001171825.1:p.Glu831del
NM_001184897.1:c.2080_2082del	NP_001171826.1:p.Glu694del
NM_001184898.1:c.2332_2334del	NP_001171827.1:p.Glu778del
NM_015107.2:c.2383_2385del	NP_055922.1:p.Glu795del
XM_005261996.1:c.2491_2493del	XP_005262053.1:p.Glu831del
XM_005261997.2:c.2383_2385del	XP_005262054.1:p.Glu795del
XM_005261999.1:c.2383_2385del	XP_005262056.1:p.Glu795del
XM_005262000.1:c.2188_2190del	XP_005262057.1:p.Glu730del
XM_006724585.1:c.2491_2493del	XP_006724648.1:p.Glu831del
XM_011530778.1:c.2491_2493del	XP_011529080.1:p.Glu831del
XM_005261997.4:c.2383_2385del	XP_005262054.1:p.Glu795del
XM_017029361.2:c.2383_2385del	XP_016884850.1:p.Glu795del
XM_017029362.2:c.2383_2385del	XP_016884851.1:p.Glu795del
NM_001184898.2:c.2332_2334del	NP_001171827.1:p.Glu778del
NM_015107.3:c.2383_2385del MANE Select	NP_055922.1:p.Glu795del
NM_001184897.2:c.2080_2082del	NP_001171826.1:p.Glu694del