Canonical Allele Identifier: CA5713348
Gene: EIF3A HGNC NCBI

Linked Data

dbSNP Id: rs770493523

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119050558_119050560del , CM000672.2:g.119050558_119050560del GRCh38
NC_000010.10:g.120810070_120810072del , CM000672.1:g.120810070_120810072del GRCh37
NC_000010.9:g.120800060_120800062del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369144.8:c.2440_2442del MANE Select ENSP00000358140.3:p.Glu814del
ENST00000369144.7:c.2440_2442del ENSP00000358140.3:p.Glu814del
ENST00000541549.2:c.2440_2442del ENSP00000438178.2:p.Glu814del
NM_003750.2:c.2440_2442del NP_003741.1:p.Glu814del
NM_003750.3:c.2440_2442del NP_003741.1:p.Glu814del
NM_003750.4:c.2440_2442del MANE Select NP_003741.1:p.Glu814del