Canonical Allele Identifier: CA2588321256
Gene: EIF3G HGNC NCBI
P2RY11 HGNC NCBI
PPAN-P2RY11 HGNC NCBI

Linked Data

gnomAD v4: 19-10115175-CAAGACCCCAGACACCCAAG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115176_10115194del , CM000681.2:g.10115176_10115194del GRCh38
NC_000019.9:g.10225852_10225870del , CM000681.1:g.10225852_10225870del GRCh37
NC_000019.8:g.10086852_10086870del NCBI36
NG_047007.1:g.8656_8674del
NG_051197.1:g.9731_9749del

Transcript Alleles

HGVS Amino-acid change
ENST00000253108.9:c.948-65_948-47del (EIF3G) MANE Select ENSP00000253108.3:n.948-65_948-47del
ENST00000321826.5:c.*438_*456del (P2RY11) MANE Select ENSP00000323872.4:n.*438_*456del
ENST00000253108.8:c.948-65_948-47del (EIF3G) ENSP00000253108.3:n.948-65_948-47del
ENST00000321826.4:c.*438_*456del (P2RY11) ENSP00000323872.4:n.*438_*456del
ENST00000590158.1:n.967-65_967-47del (EIF3G)
ENST00000593054.5:c.342-65_342-47del (EIF3G) ENSP00000467187.1:n.342-65_342-47del
NM_001040664.2:c.*438_*456del (PPAN-P2RY11) NP_001035754.1:n.*438_*456del
NM_001198690.1:c.*1322_*1340del (PPAN-P2RY11) NP_001185619.1:n.*1322_*1340del
NM_002566.4:c.*438_*456del (P2RY11) NP_002557.2:n.*438_*456del
NM_003755.3:c.948-65_948-47del (EIF3G) NP_003746.2:n.948-65_948-47del
NM_003755.4:c.948-65_948-47del (EIF3G) NP_003746.2:n.948-65_948-47del
NM_002566.5:c.*438_*456del (P2RY11) MANE Select NP_002557.2:n.*438_*456del
NM_003755.5:c.948-65_948-47del (EIF3G) MANE Select NP_003746.2:n.948-65_948-47del
NM_001040664.3:c.*438_*456del (PPAN-P2RY11) NP_001035754.1:n.*438_*456del
NM_001198690.2:c.*1322_*1340del (PPAN-P2RY11) NP_001185619.1:n.*1322_*1340del
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