Canonical Allele Identifier: CA2588321261
Gene: EIF3G HGNC NCBI
P2RY11 HGNC NCBI
PPAN-P2RY11 HGNC NCBI

Linked Data

gnomAD v4: 19-10115181-CCCAGACACCCAAGTGGCATCTTGGGGGTGGGTGGGCAGAGGACGGGGTAATGTGAGGACGAAGCGGGCACGGAGCCAGATGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115186_10115267del , CM000681.2:g.10115186_10115267del GRCh38
NC_000019.9:g.10225862_10225943del , CM000681.1:g.10225862_10225943del GRCh37
NC_000019.8:g.10086862_10086943del NCBI36
NG_047007.1:g.8666_8747del
NG_051197.1:g.9662_9743del

Transcript Alleles

HGVS Amino-acid change
ENST00000253108.9:c.948-134_948-53del (EIF3G) MANE Select ENSP00000253108.3:n.948-134_948-53del
ENST00000321826.5:c.*448_*529del (P2RY11) MANE Select ENSP00000323872.4:n.*448_*529del
ENST00000253108.8:c.948-134_948-53del (EIF3G) ENSP00000253108.3:n.948-134_948-53del
ENST00000321826.4:c.*448_*529del (P2RY11) ENSP00000323872.4:n.*448_*529del
ENST00000590158.1:n.967-134_967-53del (EIF3G)
ENST00000593054.5:c.342-134_342-53del (EIF3G) ENSP00000467187.1:n.342-134_342-53del
NM_001040664.2:c.*448_*529del (PPAN-P2RY11) NP_001035754.1:n.*448_*529del
NM_001198690.1:c.*1332_*1413del (PPAN-P2RY11) NP_001185619.1:n.*1332_*1413del
NM_002566.4:c.*448_*529del (P2RY11) NP_002557.2:n.*448_*529del
NM_003755.3:c.948-134_948-53del (EIF3G) NP_003746.2:n.948-134_948-53del
NM_003755.4:c.948-134_948-53del (EIF3G) NP_003746.2:n.948-134_948-53del
NM_002566.5:c.*448_*529del (P2RY11) MANE Select NP_002557.2:n.*448_*529del
NM_003755.5:c.948-134_948-53del (EIF3G) MANE Select NP_003746.2:n.948-134_948-53del
NM_001040664.3:c.*448_*529del (PPAN-P2RY11) NP_001035754.1:n.*448_*529del
NM_001198690.2:c.*1332_*1413del (PPAN-P2RY11) NP_001185619.1:n.*1332_*1413del
Search 100 bp 5'
Search 100 bp 3'