Canonical Allele Identifier: CA1133219111

Gene: PHF8

Linked Data

• dbSNP Id: rs2066588535
• gnomAD v3: X-54042983-T-TCTGG
• gnomAD v4: X-54042983-T-TCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54042983_54042984insCTGG , CM000685.2:g.54042983_54042984insCTGG	GRCh38
NC_000023.10:g.54069416_54069417insCTGG , CM000685.1:g.54069416_54069417insCTGG	GRCh37
NC_000023.9:g.54086141_54086142insCTGG	NCBI36
NG_021309.1:g.7153_7154insCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686349.1:c.-92-164_-92-163insCCAG	ENSP00000510424.1:n.-92-164_-92-163insCCAG
ENST00000687764.1:c.-92-164_-92-163insCCAG	ENSP00000509967.1:n.-92-164_-92-163insCCAG
ENST00000338154.11:c.-92-164_-92-163insCCAG MANE Select	ENSP00000338868.6:n.-92-164_-92-163insCCAG
ENST00000322659.12:c.-93+127_-93+128insCCAG	ENSP00000319473.8:n.-93+127_-93+128insCCAG
ENST00000338154.10:c.-92-164_-92-163insCCAG	ENSP00000338868.6:n.-92-164_-92-163insCCAG
ENST00000338946.10:c.-92-164_-92-163insCCAG	ENSP00000340051.6:n.-92-164_-92-163insCCAG
ENST00000357988.9:c.17-164_17-163insCCAG	ENSP00000350676.5:n.17-164_17-163insCCAG
ENST00000415025.5:c.-92-164_-92-163insCCAG	ENSP00000404117.1:n.-92-164_-92-163insCCAG
ENST00000425862.5:c.-185_-184insCCAG	ENSP00000408113.1:n.-185_-184insCCAG
ENST00000433120.5:c.-256_-255insCCAG	ENSP00000410100.1:n.-256_-255insCCAG
ENST00000437224.5:c.-81-175_-81-174insCCAG	ENSP00000398995.1:n.-81-175_-81-174insCCAG
ENST00000445025.1:c.-93+74_-93+75insCCAG	ENSP00000416546.1:n.-93+74_-93+75insCCAG
ENST00000453905.5:c.17-164_17-163insCCAG	ENSP00000405897.1:n.17-164_17-163insCCAG
NM_001184896.1:c.17-164_17-163insCCAG	NP_001171825.1:n.17-164_17-163insCCAG
NM_001184897.1:c.-92-164_-92-163insCCAG	NP_001171826.1:n.-92-164_-92-163insCCAG
NM_001184898.1:c.-93+127_-93+128insCCAG	NP_001171827.1:n.-93+127_-93+128insCCAG
NM_015107.2:c.-92-164_-92-163insCCAG	NP_055922.1:n.-92-164_-92-163insCCAG
XM_005261996.1:c.17-164_17-163insCCAG	XP_005262053.1:n.17-164_17-163insCCAG
XM_005261997.2:c.-92-164_-92-163insCCAG	XP_005262054.1:n.-92-164_-92-163insCCAG
XM_005261999.1:c.-93+127_-93+128insCCAG	XP_005262056.1:n.-93+127_-93+128insCCAG
XM_005262000.1:c.17-164_17-163insCCAG	XP_005262057.1:n.17-164_17-163insCCAG
XM_006724585.1:c.17-164_17-163insCCAG	XP_006724648.1:n.17-164_17-163insCCAG
XM_011530778.1:c.17-164_17-163insCCAG	XP_011529080.1:n.17-164_17-163insCCAG
XM_005261997.4:c.-92-164_-92-163insCCAG	XP_005262054.1:n.-92-164_-92-163insCCAG
XM_017029361.2:c.-92-164_-92-163insCCAG	XP_016884850.1:n.-92-164_-92-163insCCAG
XM_017029362.2:c.-92-164_-92-163insCCAG	XP_016884851.1:n.-92-164_-92-163insCCAG
NM_001184898.2:c.-93+127_-93+128insCCAG	NP_001171827.1:n.-93+127_-93+128insCCAG
NM_015107.3:c.-92-164_-92-163insCCAG MANE Select	NP_055922.1:n.-92-164_-92-163insCCAG
NM_001184897.2:c.-92-164_-92-163insCCAG	NP_001171826.1:n.-92-164_-92-163insCCAG