Canonical Allele Identifier: CA783165772
Gene: EIF3G HGNC NCBI
P2RY11 HGNC NCBI
PPAN-P2RY11 HGNC NCBI
gnomAD v3:
19:10115283 C / CA
gnomAD v4:
chr19-10115283-C-CA
Joint Max Group AF 0.00002071 (NFE)
Genomes Max Group AF 0.00005842 (NFE)
Exomes Max Group AF 0.00001361 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115284dup , CM000681.2:g.10115284dup GRCh38
NC_000019.9:g.10225960dup , CM000681.1:g.10225960dup GRCh37
NC_000019.8:g.10086960dup NCBI36
NG_047007.1:g.8764dup
NG_051197.1:g.9641dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000253108.9:c.948-155dup (EIF3G) MANE Select ENSP00000253108.3:n.948-155dup
ENST00000321826.5:c.*546dup (P2RY11) MANE Select ENSP00000323872.4:n.*546dup
ENST00000253108.8:c.948-155dup (EIF3G) ENSP00000253108.3:n.948-155dup
ENST00000321826.4:c.*546dup (P2RY11) ENSP00000323872.4:n.*546dup
ENST00000590158.1:n.967-155dup (EIF3G)
ENST00000593054.5:c.342-155dup (EIF3G) ENSP00000467187.1:n.342-155dup
NM_001040664.2:c.*546dup (PPAN-P2RY11) NP_001035754.1:n.*546dup
NM_001198690.1:c.*1430dup (PPAN-P2RY11) NP_001185619.1:n.*1430dup
NM_002566.4:c.*546dup (P2RY11) NP_002557.2:n.*546dup
NM_003755.3:c.948-155dup (EIF3G) NP_003746.2:n.948-155dup
NM_003755.4:c.948-155dup (EIF3G) NP_003746.2:n.948-155dup
NM_002566.5:c.*546dup (P2RY11) MANE Select NP_002557.2:n.*546dup
NM_003755.5:c.948-155dup (EIF3G) MANE Select NP_003746.2:n.948-155dup
NM_001040664.3:c.*546dup (PPAN-P2RY11) NP_001035754.1:n.*546dup
NM_001198690.2:c.*1430dup (PPAN-P2RY11) NP_001185619.1:n.*1430dup
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