Canonical Allele Identifier: CA9186779

Gene: EIF3G

Linked Data

• dbSNP Id: rs747880366
• ExAC: 19:10226143 A / ATGGAG
• gnomAD v2: 19-10226143-A-ATGGAG
• gnomAD v3: 19-10115467-A-ATGGAG
• gnomAD v4: 19-10115467-A-ATGGAG
• MyVariant Identifiers: chr19:g.10226143_10226144insTGGAG (hg19) ; chr19:g.10115467_10115468insTGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115469_10115473dup , CM000681.2:g.10115469_10115473dup	GRCh38
NC_000019.9:g.10226145_10226149dup , CM000681.1:g.10226145_10226149dup	GRCh37
NC_000019.8:g.10087145_10087149dup	NCBI36
NG_047007.1:g.8949_8953dup
NG_051197.1:g.9453_9457dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253108.9:c.947+7_947+11dup MANE Select	ENSP00000253108.3:n.947+7_947+11dup
ENST00000253108.8:c.947+7_947+11dup	ENSP00000253108.3:n.947+7_947+11dup
ENST00000590158.1:n.966+7_966+11dup
ENST00000593054.5:c.341+7_341+11dup	ENSP00000467187.1:n.341+7_341+11dup
NM_003755.3:c.947+7_947+11dup	NP_003746.2:n.947+7_947+11dup
NM_003755.4:c.947+7_947+11dup	NP_003746.2:n.947+7_947+11dup
NM_003755.5:c.947+7_947+11dup MANE Select	NP_003746.2:n.947+7_947+11dup