Canonical Allele Identifier: CA2473570282

Gene: EIF2B3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978230_44978231delinsCA , CM000663.2:g.44978230_44978231delinsCA	GRCh38
NC_000001.10:g.45443902_45443903delinsCA , CM000663.1:g.45443902_45443903delinsCA	GRCh37
NC_000001.9:g.45216489_45216490delinsCA	NCBI36
NG_015864.1:g.13459_13460delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.294+84_294+85delinsTG MANE Select	ENSP00000353575.2:n.294+84_294+85delinsTG
ENST00000360403.6:c.294+84_294+85delinsTG	ENSP00000353575.2:n.294+84_294+85delinsTG
ENST00000372182.6:n.407+84_407+85delinsTG
ENST00000372183.7:c.294+84_294+85delinsTG	ENSP00000361257.3:n.294+84_294+85delinsTG
ENST00000477953.5:n.397+84_397+85delinsTG
ENST00000480675.5:c.294+84_294+85delinsTG	ENSP00000485842.1:n.294+84_294+85delinsTG
ENST00000487532.5:n.406+84_406+85delinsTG
ENST00000497010.1:n.406+84_406+85delinsTG
ENST00000620860.4:c.294+84_294+85delinsTG	ENSP00000483996.1:n.294+84_294+85delinsTG
NM_001166588.2:c.294+84_294+85delinsTG	NP_001160060.1:n.294+84_294+85delinsTG
NM_001261418.1:c.294+84_294+85delinsTG	NP_001248347.1:n.294+84_294+85delinsTG
NM_020365.4:c.294+84_294+85delinsTG	NP_065098.1:n.294+84_294+85delinsTG
XM_011542396.1:c.294+84_294+85delinsTG	XP_011540698.1:n.294+84_294+85delinsTG
XM_017002745.2:c.294+84_294+85delinsTG	XP_016858234.1:n.294+84_294+85delinsTG
XM_017002746.1:c.-161+84_-161+85delinsTG	XP_016858235.1:n.-161+84_-161+85delinsTG
XM_017002747.1:c.-161+84_-161+85delinsTG	XP_016858236.1:n.-161+84_-161+85delinsTG
NM_020365.5:c.294+84_294+85delinsTG MANE Select	NP_065098.1:n.294+84_294+85delinsTG
NM_001166588.3:c.294+84_294+85delinsTG	NP_001160060.1:n.294+84_294+85delinsTG
NM_001261418.2:c.294+84_294+85delinsTG	NP_001248347.1:n.294+84_294+85delinsTG