Canonical Allele Identifier: CA2459717427
Gene: PHF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.134413761_134413762delinsGA , CM000685.2:g.134413761_134413762delinsGA GRCh38
NC_000023.10:g.133547791_133547792delinsGA , CM000685.1:g.133547791_133547792delinsGA GRCh37
NC_000023.9:g.133375457_133375458delinsGA NCBI36
NG_008886.1:g.45450_45451delinsGA , LRG_629:g.45450_45451delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000685553.1:c.*505-62_*505-61delinsGA ENSP00000510193.1:n.*505-62_*505-61delinsGA
ENST00000687496.1:c.484-62_484-61delinsGA ENSP00000509551.1:n.484-62_484-61delinsGA
ENST00000688598.1:c.484-62_484-61delinsGA ENSP00000510410.1:n.484-62_484-61delinsGA
ENST00000691812.1:c.586-62_586-61delinsGA ENSP00000510211.1:n.586-62_586-61delinsGA
ENST00000693759.1:c.*198-62_*198-61delinsGA ENSP00000509518.1:n.*198-62_*198-61delinsGA
ENST00000370803.8:c.586-62_586-61delinsGA MANE Select ENSP00000359839.4:n.586-62_586-61delinsGA
ENST00000332070.7:c.586-62_586-61delinsGA ENSP00000329097.3:n.586-62_586-61delinsGA
ENST00000370799.5:c.589-62_589-61delinsGA ENSP00000359835.1:n.589-62_589-61delinsGA
ENST00000370800.4:c.589-62_589-61delinsGA ENSP00000359836.4:n.589-62_589-61delinsGA
ENST00000370803.7:c.586-62_586-61delinsGA ENSP00000359839.3:n.586-62_586-61delinsGA
ENST00000625464.2:c.589-62_589-61delinsGA ENSP00000487420.1:n.589-62_589-61delinsGA
NM_001015877.1:c.586-62_586-61delinsGA , LRG_629t1:c.586-62_586-61delinsGA NP_001015877.1:n.586-62_586-61delinsGA
NM_032335.3:c.589-62_589-61delinsGA , LRG_629t2:c.589-62_589-61delinsGA NP_115711.2:n.589-62_589-61delinsGA
NM_032458.2:c.586-62_586-61delinsGA NP_115834.1:n.586-62_586-61delinsGA
NM_001015877.2:c.586-62_586-61delinsGA MANE Select NP_001015877.1:n.586-62_586-61delinsGA
NM_032458.3:c.586-62_586-61delinsGA NP_115834.1:n.586-62_586-61delinsGA