Canonical Allele Identifier: CA641897535

Gene: PHF8

Linked Data

• dbSNP Id: rs1252383191
• gnomAD v2: X-54069638-AC-A
• gnomAD v3: X-54043205-AC-A
• gnomAD v4: X-54043205-AC-A
• MyVariant Identifiers: chrX:g.54069639del (hg19) ; chrX:g.54043206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54043206del , CM000685.2:g.54043206del	GRCh38
NC_000023.10:g.54069639del , CM000685.1:g.54069639del	GRCh37
NC_000023.9:g.54086364del	NCBI36
NG_021309.1:g.6931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-92-386del	ENSP00000510424.1:n.-92-386del
ENST00000687764.1:c.-92-386del	ENSP00000509967.1:n.-92-386del
ENST00000338154.11:c.-92-386del MANE Select	ENSP00000338868.6:n.-92-386del
ENST00000338154.10:c.-92-386del	ENSP00000338868.6:n.-92-386del
ENST00000338946.10:c.-92-386del	ENSP00000340051.6:n.-92-386del
ENST00000357988.9:c.17-386del	ENSP00000350676.5:n.17-386del
ENST00000415025.5:c.-92-386del	ENSP00000404117.1:n.-92-386del
ENST00000437224.5:c.-81-397del	ENSP00000398995.1:n.-81-397del
ENST00000453905.5:c.17-386del	ENSP00000405897.1:n.17-386del
NM_001184896.1:c.17-386del	NP_001171825.1:n.17-386del
NM_001184897.1:c.-92-386del	NP_001171826.1:n.-92-386del
NM_015107.2:c.-92-386del	NP_055922.1:n.-92-386del
XM_005261996.1:c.17-386del	XP_005262053.1:n.17-386del
XM_005261997.2:c.-92-386del	XP_005262054.1:n.-92-386del
XM_005262000.1:c.17-386del	XP_005262057.1:n.17-386del
XM_006724585.1:c.17-386del	XP_006724648.1:n.17-386del
XM_011530778.1:c.17-386del	XP_011529080.1:n.17-386del
XM_005261997.4:c.-92-386del	XP_005262054.1:n.-92-386del
XM_017029361.2:c.-92-386del	XP_016884850.1:n.-92-386del
XM_017029362.2:c.-92-386del	XP_016884851.1:n.-92-386del
NM_015107.3:c.-92-386del MANE Select	NP_055922.1:n.-92-386del
NM_001184897.2:c.-92-386del	NP_001171826.1:n.-92-386del