Canonical Allele Identifier: CA9186772

Gene: EIF3G

Linked Data

• dbSNP Id: rs768604898
• ExAC: 19:10226121 GGGAGCA / G
• gnomAD v2: 19-10226121-GGGAGCA-G
• gnomAD v3: 19-10115445-GGGAGCA-G
• gnomAD v4: 19-10115445-GGGAGCA-G
• MyVariant Identifiers: chr19:g.10226122_10226127del (hg19) ; chr19:g.10115446_10115451del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115448_10115453del , CM000681.2:g.10115448_10115453del	GRCh38
NC_000019.9:g.10226124_10226129del , CM000681.1:g.10226124_10226129del	GRCh37
NC_000019.8:g.10087124_10087129del	NCBI36
NG_047007.1:g.8928_8933del
NG_051197.1:g.9474_9479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253108.9:c.947+28_947+33del MANE Select	ENSP00000253108.3:n.947+28_947+33del
ENST00000253108.8:c.947+28_947+33del	ENSP00000253108.3:n.947+28_947+33del
ENST00000590158.1:n.966+28_966+33del
ENST00000593054.5:c.341+28_341+33del	ENSP00000467187.1:n.341+28_341+33del
NM_003755.3:c.947+28_947+33del	NP_003746.2:n.947+28_947+33del
NM_003755.4:c.947+28_947+33del	NP_003746.2:n.947+28_947+33del
NM_003755.5:c.947+28_947+33del MANE Select	NP_003746.2:n.947+28_947+33del