Canonical Allele Identifier: CA2588321360

Gene: EIF3G P2RY11 PPAN-P2RY11

Linked Data

• gnomAD v4: 19-10115282-C-CCACGGACTGGCAGGGACCCCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115286_10115308dup , CM000681.2:g.10115286_10115308dup	GRCh38
NC_000019.9:g.10225962_10225984dup , CM000681.1:g.10225962_10225984dup	GRCh37
NC_000019.8:g.10086962_10086984dup	NCBI36
NG_047007.1:g.8766_8788dup
NG_051197.1:g.9620_9642dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+174_948-154dup (EIF3G) MANE Select	ENSP00000253108.3:n.947+174_948-154dup
ENST00000321826.5:c.*548_*570dup (P2RY11) MANE Select	ENSP00000323872.4:n.*548_*570dup
ENST00000253108.8:c.947+174_948-154dup (EIF3G)	ENSP00000253108.3:n.947+174_948-154dup
ENST00000321826.4:c.*548_*570dup (P2RY11)	ENSP00000323872.4:n.*548_*570dup
ENST00000590158.1:n.966+174_967-154dup (EIF3G)
ENST00000593054.5:c.341+174_342-154dup (EIF3G)	ENSP00000467187.1:n.341+174_342-154dup
NM_001040664.2:c.*548_*570dup (PPAN-P2RY11)	NP_001035754.1:n.*548_*570dup
NM_001198690.1:c.*1432_*1454dup (PPAN-P2RY11)	NP_001185619.1:n.*1432_*1454dup
NM_002566.4:c.*548_*570dup (P2RY11)	NP_002557.2:n.*548_*570dup
NM_003755.3:c.947+174_948-154dup (EIF3G)	NP_003746.2:n.947+174_948-154dup
NM_003755.4:c.947+174_948-154dup (EIF3G)	NP_003746.2:n.947+174_948-154dup
NM_002566.5:c.*548_*570dup (P2RY11) MANE Select	NP_002557.2:n.*548_*570dup
NM_003755.5:c.947+174_948-154dup (EIF3G) MANE Select	NP_003746.2:n.947+174_948-154dup
NM_001040664.3:c.*548_*570dup (PPAN-P2RY11)	NP_001035754.1:n.*548_*570dup
NM_001198690.2:c.*1432_*1454dup (PPAN-P2RY11)	NP_001185619.1:n.*1432_*1454dup