Canonical Allele Identifier: CA2693831526

Gene: PHF8

Linked Data

• gnomAD v4: X-54043179-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54043179_54043180insC , CM000685.2:g.54043179_54043180insC	GRCh38
NC_000023.10:g.54069612_54069613insC , CM000685.1:g.54069612_54069613insC	GRCh37
NC_000023.9:g.54086337_54086338insC	NCBI36
NG_021309.1:g.6957_6958insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-92-360_-92-359insG	ENSP00000510424.1:n.-92-360_-92-359insG
ENST00000687764.1:c.-92-360_-92-359insG	ENSP00000509967.1:n.-92-360_-92-359insG
ENST00000338154.11:c.-92-360_-92-359insG MANE Select	ENSP00000338868.6:n.-92-360_-92-359insG
ENST00000322659.12:c.-162_-161insG	ENSP00000319473.8:n.-162_-161insG
ENST00000338154.10:c.-92-360_-92-359insG	ENSP00000338868.6:n.-92-360_-92-359insG
ENST00000338946.10:c.-92-360_-92-359insG	ENSP00000340051.6:n.-92-360_-92-359insG
ENST00000357988.9:c.17-360_17-359insG	ENSP00000350676.5:n.17-360_17-359insG
ENST00000415025.5:c.-92-360_-92-359insG	ENSP00000404117.1:n.-92-360_-92-359insG
ENST00000437224.5:c.-81-371_-81-370insG	ENSP00000398995.1:n.-81-371_-81-370insG
ENST00000453905.5:c.17-360_17-359insG	ENSP00000405897.1:n.17-360_17-359insG
NM_001184896.1:c.17-360_17-359insG	NP_001171825.1:n.17-360_17-359insG
NM_001184897.1:c.-92-360_-92-359insG	NP_001171826.1:n.-92-360_-92-359insG
NM_001184898.1:c.-162_-161insG	NP_001171827.1:n.-162_-161insG
NM_015107.2:c.-92-360_-92-359insG	NP_055922.1:n.-92-360_-92-359insG
XM_005261996.1:c.17-360_17-359insG	XP_005262053.1:n.17-360_17-359insG
XM_005261997.2:c.-92-360_-92-359insG	XP_005262054.1:n.-92-360_-92-359insG
XM_005261999.1:c.-162_-161insG	XP_005262056.1:n.-162_-161insG
XM_005262000.1:c.17-360_17-359insG	XP_005262057.1:n.17-360_17-359insG
XM_006724585.1:c.17-360_17-359insG	XP_006724648.1:n.17-360_17-359insG
XM_011530778.1:c.17-360_17-359insG	XP_011529080.1:n.17-360_17-359insG
XM_005261997.4:c.-92-360_-92-359insG	XP_005262054.1:n.-92-360_-92-359insG
XM_017029361.2:c.-92-360_-92-359insG	XP_016884850.1:n.-92-360_-92-359insG
XM_017029362.2:c.-92-360_-92-359insG	XP_016884851.1:n.-92-360_-92-359insG
NM_015107.3:c.-92-360_-92-359insG MANE Select	NP_055922.1:n.-92-360_-92-359insG
NM_001184897.2:c.-92-360_-92-359insG	NP_001171826.1:n.-92-360_-92-359insG