Canonical Allele Identifier: CA631709056

Gene: EIF3G

Linked Data

• dbSNP Id: rs1264346332
• gnomAD v2: 19-10226115-AAGGCAGGGAGCAGGGGCTGGGGC-A
• MyVariant Identifiers: chr19:g.10226116_10226138del (hg19) ; chr19:g.10115440_10115462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115443_10115465del , CM000681.2:g.10115443_10115465del	GRCh38
NC_000019.9:g.10226119_10226141del , CM000681.1:g.10226119_10226141del	GRCh37
NC_000019.8:g.10087119_10087141del	NCBI36
NG_047007.1:g.8923_8945del
NG_051197.1:g.9463_9485del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+17_947+39del MANE Select	ENSP00000253108.3:n.947+17_947+39del
ENST00000253108.8:c.947+17_947+39del	ENSP00000253108.3:n.947+17_947+39del
ENST00000590158.1:n.966+17_966+39del
ENST00000593054.5:c.341+17_341+39del	ENSP00000467187.1:n.341+17_341+39del
NM_003755.3:c.947+17_947+39del	NP_003746.2:n.947+17_947+39del
NM_003755.4:c.947+17_947+39del	NP_003746.2:n.947+17_947+39del
NM_003755.5:c.947+17_947+39del MANE Select	NP_003746.2:n.947+17_947+39del