Canonical Allele Identifier: CA631444947
Gene: EIF3G HGNC NCBI
P2RY11 HGNC NCBI
PPAN-P2RY11 HGNC NCBI

Linked Data

dbSNP Id: rs1357309712
gnomAD v2: 19-10225916-CGAA-C
gnomAD v3: 19-10115240-CGAA-C
gnomAD v4: 19-10115240-CGAA-C
MyVariant Identifiers: chr19:g.10225917_10225919del (hg19) chr19:g.10115241_10115243del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10115242_10115244del , CM000681.2:g.10115242_10115244del GRCh38
NC_000019.9:g.10225918_10225920del , CM000681.1:g.10225918_10225920del GRCh37
NC_000019.8:g.10086918_10086920del NCBI36
NG_047007.1:g.8722_8724del
NG_051197.1:g.9682_9684del

Transcript Alleles

HGVS Amino-acid change
ENST00000253108.9:c.948-114_948-112del (EIF3G) MANE Select ENSP00000253108.3:n.948-114_948-112del
ENST00000321826.5:c.*504_*506del (P2RY11) MANE Select ENSP00000323872.4:n.*504_*506del
ENST00000253108.8:c.948-114_948-112del (EIF3G) ENSP00000253108.3:n.948-114_948-112del
ENST00000321826.4:c.*504_*506del (P2RY11) ENSP00000323872.4:n.*504_*506del
ENST00000590158.1:n.967-114_967-112del (EIF3G)
ENST00000593054.5:c.342-114_342-112del (EIF3G) ENSP00000467187.1:n.342-114_342-112del
NM_001040664.2:c.*504_*506del (PPAN-P2RY11) NP_001035754.1:n.*504_*506del
NM_001198690.1:c.*1388_*1390del (PPAN-P2RY11) NP_001185619.1:n.*1388_*1390del
NM_002566.4:c.*504_*506del (P2RY11) NP_002557.2:n.*504_*506del
NM_003755.3:c.948-114_948-112del (EIF3G) NP_003746.2:n.948-114_948-112del
NM_003755.4:c.948-114_948-112del (EIF3G) NP_003746.2:n.948-114_948-112del
NM_002566.5:c.*504_*506del (P2RY11) MANE Select NP_002557.2:n.*504_*506del
NM_003755.5:c.948-114_948-112del (EIF3G) MANE Select NP_003746.2:n.948-114_948-112del
NM_001040664.3:c.*504_*506del (PPAN-P2RY11) NP_001035754.1:n.*504_*506del
NM_001198690.2:c.*1388_*1390del (PPAN-P2RY11) NP_001185619.1:n.*1388_*1390del
Search 100 bp 5'
Search 100 bp 3'