Canonical Allele Identifier: CA1133219173

Gene: PHF8

Linked Data

• gnomAD v3: X-54043030-C-CAGAT
• gnomAD v4: X-54043030-C-CAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54043030_54043031insAGAT , CM000685.2:g.54043030_54043031insAGAT	GRCh38
NC_000023.10:g.54069463_54069464insAGAT , CM000685.1:g.54069463_54069464insAGAT	GRCh37
NC_000023.9:g.54086188_54086189insAGAT	NCBI36
NG_021309.1:g.7106_7107insATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-92-211_-92-210insATCT	ENSP00000510424.1:n.-92-211_-92-210insATCT
ENST00000687764.1:c.-92-211_-92-210insATCT	ENSP00000509967.1:n.-92-211_-92-210insATCT
ENST00000338154.11:c.-92-211_-92-210insATCT MANE Select	ENSP00000338868.6:n.-92-211_-92-210insATCT
ENST00000322659.12:c.-93+80_-93+81insATCT	ENSP00000319473.8:n.-93+80_-93+81insATCT
ENST00000338154.10:c.-92-211_-92-210insATCT	ENSP00000338868.6:n.-92-211_-92-210insATCT
ENST00000338946.10:c.-92-211_-92-210insATCT	ENSP00000340051.6:n.-92-211_-92-210insATCT
ENST00000357988.9:c.17-211_17-210insATCT	ENSP00000350676.5:n.17-211_17-210insATCT
ENST00000415025.5:c.-92-211_-92-210insATCT	ENSP00000404117.1:n.-92-211_-92-210insATCT
ENST00000437224.5:c.-81-222_-81-221insATCT	ENSP00000398995.1:n.-81-222_-81-221insATCT
ENST00000445025.1:c.-93+27_-93+28insATCT	ENSP00000416546.1:n.-93+27_-93+28insATCT
ENST00000453905.5:c.17-211_17-210insATCT	ENSP00000405897.1:n.17-211_17-210insATCT
NM_001184896.1:c.17-211_17-210insATCT	NP_001171825.1:n.17-211_17-210insATCT
NM_001184897.1:c.-92-211_-92-210insATCT	NP_001171826.1:n.-92-211_-92-210insATCT
NM_001184898.1:c.-93+80_-93+81insATCT	NP_001171827.1:n.-93+80_-93+81insATCT
NM_015107.2:c.-92-211_-92-210insATCT	NP_055922.1:n.-92-211_-92-210insATCT
XM_005261996.1:c.17-211_17-210insATCT	XP_005262053.1:n.17-211_17-210insATCT
XM_005261997.2:c.-92-211_-92-210insATCT	XP_005262054.1:n.-92-211_-92-210insATCT
XM_005261999.1:c.-93+80_-93+81insATCT	XP_005262056.1:n.-93+80_-93+81insATCT
XM_005262000.1:c.17-211_17-210insATCT	XP_005262057.1:n.17-211_17-210insATCT
XM_006724585.1:c.17-211_17-210insATCT	XP_006724648.1:n.17-211_17-210insATCT
XM_011530778.1:c.17-211_17-210insATCT	XP_011529080.1:n.17-211_17-210insATCT
XM_005261997.4:c.-92-211_-92-210insATCT	XP_005262054.1:n.-92-211_-92-210insATCT
XM_017029361.2:c.-92-211_-92-210insATCT	XP_016884850.1:n.-92-211_-92-210insATCT
XM_017029362.2:c.-92-211_-92-210insATCT	XP_016884851.1:n.-92-211_-92-210insATCT
NM_001184898.2:c.-93+80_-93+81insATCT	NP_001171827.1:n.-93+80_-93+81insATCT
NM_015107.3:c.-92-211_-92-210insATCT MANE Select	NP_055922.1:n.-92-211_-92-210insATCT
NM_001184897.2:c.-92-211_-92-210insATCT	NP_001171826.1:n.-92-211_-92-210insATCT