Canonical Allele Identifier: CA2430051250

Gene: PHF8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54043017_54043042delinsGCTTCCCACCGCCCCCACACTCTCCA , CM000685.2:g.54043017_54043042delinsGCTTCCCACCGCCCCCACACTCTCCA	GRCh38
NC_000023.10:g.54069450_54069475delinsGCTTCCCACCGCCCCCACACTCTCCA , CM000685.1:g.54069450_54069475delinsGCTTCCCACCGCCCCCACACTCTCCA	GRCh37
NC_000023.9:g.54086175_54086200delinsGCTTCCCACCGCCCCCACACTCTCCA	NCBI36
NG_021309.1:g.7095_7120delinsTGGAGAGTGTGGGGGCGGTGGGAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000510424.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTG...
ENST00000687764.1:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000509967.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTG...
ENST00000338154.11:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC MANE Select	ENSP00000338868.6:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTG...
ENST00000322659.12:c.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000319473.8:n.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGG...
ENST00000338154.10:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000338868.6:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTG...
ENST00000338946.10:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000340051.6:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTG...
ENST00000357988.9:c.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000350676.5:n.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGG...
ENST00000415025.5:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000404117.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTG...
ENST00000437224.5:c.-81-233_-81-208delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000398995.1:n.-81-233_-81-208delinsTGGAGAGTGTGGGGGCGGTG...
ENST00000445025.1:c.-93+16_-93+41delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000416546.1:n.-93+16_-93+41delinsTGGAGAGTGTGGGGGCGGTGGG...
ENST00000453905.5:c.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	ENSP00000405897.1:n.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGG...
NM_001184896.1:c.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	NP_001171825.1:n.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
NM_001184897.1:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	NP_001171826.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGA...
NM_001184898.1:c.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	NP_001171827.1:n.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
NM_015107.2:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	NP_055922.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC...
XM_005261996.1:c.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_005262053.1:n.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
XM_005261997.2:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_005262054.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGA...
XM_005261999.1:c.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_005262056.1:n.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
XM_005262000.1:c.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_005262057.1:n.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
XM_006724585.1:c.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_006724648.1:n.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
XM_011530778.1:c.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_011529080.1:n.17-222_17-197delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
XM_005261997.4:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_005262054.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGA...
XM_017029361.2:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_016884850.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGA...
XM_017029362.2:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	XP_016884851.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGA...
NM_001184898.2:c.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	NP_001171827.1:n.-93+69_-93+94delinsTGGAGAGTGTGGGGGCGGTGGGAAG...
NM_015107.3:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC MANE Select	NP_055922.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC...
NM_001184897.2:c.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGAAGC	NP_001171826.1:n.-92-222_-92-197delinsTGGAGAGTGTGGGGGCGGTGGGA...