Canonical Allele Identifier: CA2693831238

Gene: PHF8

Linked Data

• gnomAD v4: X-54043037-TCTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54043042_54043046del , CM000685.2:g.54043042_54043046del	GRCh38
NC_000023.10:g.54069475_54069479del , CM000685.1:g.54069475_54069479del	GRCh37
NC_000023.9:g.54086200_54086204del	NCBI36
NG_021309.1:g.7095_7099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-92-222_-92-218del	ENSP00000510424.1:n.-92-222_-92-218del
ENST00000687764.1:c.-92-222_-92-218del	ENSP00000509967.1:n.-92-222_-92-218del
ENST00000338154.11:c.-92-222_-92-218del MANE Select	ENSP00000338868.6:n.-92-222_-92-218del
ENST00000322659.12:c.-93+69_-93+73del	ENSP00000319473.8:n.-93+69_-93+73del
ENST00000338154.10:c.-92-222_-92-218del	ENSP00000338868.6:n.-92-222_-92-218del
ENST00000338946.10:c.-92-222_-92-218del	ENSP00000340051.6:n.-92-222_-92-218del
ENST00000357988.9:c.17-222_17-218del	ENSP00000350676.5:n.17-222_17-218del
ENST00000415025.5:c.-92-222_-92-218del	ENSP00000404117.1:n.-92-222_-92-218del
ENST00000437224.5:c.-81-233_-81-229del	ENSP00000398995.1:n.-81-233_-81-229del
ENST00000445025.1:c.-93+16_-93+20del	ENSP00000416546.1:n.-93+16_-93+20del
ENST00000453905.5:c.17-222_17-218del	ENSP00000405897.1:n.17-222_17-218del
NM_001184896.1:c.17-222_17-218del	NP_001171825.1:n.17-222_17-218del
NM_001184897.1:c.-92-222_-92-218del	NP_001171826.1:n.-92-222_-92-218del
NM_001184898.1:c.-93+69_-93+73del	NP_001171827.1:n.-93+69_-93+73del
NM_015107.2:c.-92-222_-92-218del	NP_055922.1:n.-92-222_-92-218del
XM_005261996.1:c.17-222_17-218del	XP_005262053.1:n.17-222_17-218del
XM_005261997.2:c.-92-222_-92-218del	XP_005262054.1:n.-92-222_-92-218del
XM_005261999.1:c.-93+69_-93+73del	XP_005262056.1:n.-93+69_-93+73del
XM_005262000.1:c.17-222_17-218del	XP_005262057.1:n.17-222_17-218del
XM_006724585.1:c.17-222_17-218del	XP_006724648.1:n.17-222_17-218del
XM_011530778.1:c.17-222_17-218del	XP_011529080.1:n.17-222_17-218del
XM_005261997.4:c.-92-222_-92-218del	XP_005262054.1:n.-92-222_-92-218del
XM_017029361.2:c.-92-222_-92-218del	XP_016884850.1:n.-92-222_-92-218del
XM_017029362.2:c.-92-222_-92-218del	XP_016884851.1:n.-92-222_-92-218del
NM_001184898.2:c.-93+69_-93+73del	NP_001171827.1:n.-93+69_-93+73del
NM_015107.3:c.-92-222_-92-218del MANE Select	NP_055922.1:n.-92-222_-92-218del
NM_001184897.2:c.-92-222_-92-218del	NP_001171826.1:n.-92-222_-92-218del