Canonical Allele Identifier: CA783165772

Gene: EIF3G P2RY11 PPAN-P2RY11

Linked Data

• dbSNP Id: rs1243820947
• gnomAD v3: 19-10115283-C-CA
• gnomAD v4: 19-10115283-C-CA
• MyVariant Identifiers: chr19:g.10225959_10225960insA (hg19) ; chr19:g.10115283_10115284insA (hg38)

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