Canonical Allele Identifier: CA976319750
Community Standard Title: NM_000294.3(PHKG2):c.182_196dup (p.Arg61_Glu65dup)
Gene: PHKG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30751192_30751206dup , CM000678.2:g.30751192_30751206dup GRCh38
NC_000016.9:g.30762513_30762527dup , CM000678.1:g.30762513_30762527dup GRCh37
NC_000016.8:g.30670014_30670028dup NCBI36
NG_016616.1:g.7894_7908dup
NG_016616.2:g.7894_7908dup

Transcript Alleles

HGVS Amino-acid Change
NM_000294.3:c.182_196dup MANE Select NP_000285.1:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000563588.6:c.182_196dup MANE Select ENSP00000455607.1:p.Glu65_Gln66insArgLeuSerProGlu
NM_000294.2:c.182_196dup NP_000285.1:p.Glu65_Gln66insArgLeuSerProGlu
NM_001172432.1:c.182_196dup NP_001165903.1:p.Glu65_Gln66insArgLeuSerProGlu
NM_001172432.2:c.182_196dup NP_001165903.1:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000328273.11:c.182_196dup ENSP00000329968.7:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000424889.7:c.182_196dup ENSP00000388571.3:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000563588.5:c.182_196dup ENSP00000455607.1:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000563607.1:c.182_196dup ENSP00000454641.1:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000563913.5:n.248_262dup
ENST00000564838.5:n.289_303dup
ENST00000565897.5:c.182_196dup ENSP00000457359.1:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000565924.5:c.182_196dup ENSP00000455091.1:p.Glu65_Gln66insArgLeuSerProGlu
ENST00000569762.1:n.159_173dup