Canonical Allele Identifier: CA2473570312

Gene: EIF2B3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978297_44978298delinsCA , CM000663.2:g.44978297_44978298delinsCA	GRCh38
NC_000001.10:g.45443969_45443970delinsCA , CM000663.1:g.45443969_45443970delinsCA	GRCh37
NC_000001.9:g.45216556_45216557delinsCA	NCBI36
NG_015864.1:g.13392_13393delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.294+17_294+18delinsTG MANE Select	ENSP00000353575.2:n.294+17_294+18delinsTG
ENST00000360403.6:c.294+17_294+18delinsTG	ENSP00000353575.2:n.294+17_294+18delinsTG
ENST00000372182.6:n.407+17_407+18delinsTG
ENST00000372183.7:c.294+17_294+18delinsTG	ENSP00000361257.3:n.294+17_294+18delinsTG
ENST00000477953.5:n.397+17_397+18delinsTG
ENST00000480675.5:c.294+17_294+18delinsTG	ENSP00000485842.1:n.294+17_294+18delinsTG
ENST00000487532.5:n.406+17_406+18delinsTG
ENST00000497010.1:n.406+17_406+18delinsTG
ENST00000620860.4:c.294+17_294+18delinsTG	ENSP00000483996.1:n.294+17_294+18delinsTG
NM_001166588.2:c.294+17_294+18delinsTG	NP_001160060.1:n.294+17_294+18delinsTG
NM_001261418.1:c.294+17_294+18delinsTG	NP_001248347.1:n.294+17_294+18delinsTG
NM_020365.4:c.294+17_294+18delinsTG	NP_065098.1:n.294+17_294+18delinsTG
XM_011542396.1:c.294+17_294+18delinsTG	XP_011540698.1:n.294+17_294+18delinsTG
XM_017002745.2:c.294+17_294+18delinsTG	XP_016858234.1:n.294+17_294+18delinsTG
XM_017002746.1:c.-161+17_-161+18delinsTG	XP_016858235.1:n.-161+17_-161+18delinsTG
XM_017002747.1:c.-161+17_-161+18delinsTG	XP_016858236.1:n.-161+17_-161+18delinsTG
NM_020365.5:c.294+17_294+18delinsTG MANE Select	NP_065098.1:n.294+17_294+18delinsTG
NM_001166588.3:c.294+17_294+18delinsTG	NP_001160060.1:n.294+17_294+18delinsTG
NM_001261418.2:c.294+17_294+18delinsTG	NP_001248347.1:n.294+17_294+18delinsTG