Canonical Allele Identifier: CA2693828192

Gene: PHF8

Linked Data

• gnomAD v4: X-53985134-AGAGGTAGCCGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53985139_53985150del , CM000685.2:g.53985139_53985150del	GRCh38
NC_000023.10:g.54011572_54011583del , CM000685.1:g.54011572_54011583del	GRCh37
NC_000023.9:g.54028297_54028308del	NCBI36
NG_021309.1:g.64991_65002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338946.11:c.1908_1919del	ENSP00000340051.7:p.Pro637_Ser640del
ENST00000396282.7:c.2211_2222del	ENSP00000379578.3:p.Pro738_Ser741del
ENST00000686349.1:c.*666_*677del	ENSP00000510424.1:n.*666_*677del
ENST00000687764.1:c.*1653_*1664del	ENSP00000509967.1:n.*1653_*1664del
ENST00000691629.1:n.1575_1586del
ENST00000338154.11:c.2211_2222del MANE Select	ENSP00000338868.6:p.Pro738_Ser741del
ENST00000322659.12:c.2160_2171del	ENSP00000319473.8:p.Pro721_Ser724del
ENST00000338154.10:c.2211_2222del	ENSP00000338868.6:p.Pro738_Ser741del
ENST00000338946.10:c.1908_1919del	ENSP00000340051.6:p.Pro637_Ser640del
ENST00000357988.9:c.2319_2330del	ENSP00000350676.5:p.Pro774_Ser777del
ENST00000396282.6:c.1922_1933del
ENST00000443302.5:c.1501_1512del
ENST00000615775.4:c.638_649del	ENSP00000482159.1:p.His213_Pro216del
NM_001184896.1:c.2319_2330del	NP_001171825.1:p.Pro774_Ser777del
NM_001184897.1:c.1908_1919del	NP_001171826.1:p.Pro637_Ser640del
NM_001184898.1:c.2160_2171del	NP_001171827.1:p.Pro721_Ser724del
NM_015107.2:c.2211_2222del	NP_055922.1:p.Pro738_Ser741del
XM_005261996.1:c.2319_2330del	XP_005262053.1:p.Pro774_Ser777del
XM_005261997.2:c.2211_2222del	XP_005262054.1:p.Pro738_Ser741del
XM_005261999.1:c.2211_2222del	XP_005262056.1:p.Pro738_Ser741del
XM_005262000.1:c.2016_2027del	XP_005262057.1:p.Pro673_Ser676del
XM_006724585.1:c.2319_2330del	XP_006724648.1:p.Pro774_Ser777del
XM_011530778.1:c.2319_2330del	XP_011529080.1:p.Pro774_Ser777del
XM_005261997.4:c.2211_2222del	XP_005262054.1:p.Pro738_Ser741del
XM_017029361.2:c.2211_2222del	XP_016884850.1:p.Pro738_Ser741del
XM_017029362.2:c.2211_2222del	XP_016884851.1:p.Pro738_Ser741del
NM_001184898.2:c.2160_2171del	NP_001171827.1:p.Pro721_Ser724del
NM_015107.3:c.2211_2222del MANE Select	NP_055922.1:p.Pro738_Ser741del
NM_001184897.2:c.1908_1919del	NP_001171826.1:p.Pro637_Ser640del