Canonical Allele Identifier: CA2645347040

Gene: EIF2B3

Linked Data

• gnomAD v4: 1-44978279-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978280_44978281del , CM000663.2:g.44978280_44978281del	GRCh38
NC_000001.10:g.45443952_45443953del , CM000663.1:g.45443952_45443953del	GRCh37
NC_000001.9:g.45216539_45216540del	NCBI36
NG_015864.1:g.13409_13410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.294+34_294+35del MANE Select	ENSP00000353575.2:n.294+34_294+35del
ENST00000360403.6:c.294+34_294+35del	ENSP00000353575.2:n.294+34_294+35del
ENST00000372182.6:n.407+34_407+35del
ENST00000372183.7:c.294+34_294+35del	ENSP00000361257.3:n.294+34_294+35del
ENST00000477953.5:n.397+34_397+35del
ENST00000480675.5:c.294+34_294+35del	ENSP00000485842.1:n.294+34_294+35del
ENST00000487532.5:n.406+34_406+35del
ENST00000497010.1:n.406+34_406+35del
ENST00000620860.4:c.294+34_294+35del	ENSP00000483996.1:n.294+34_294+35del
NM_001166588.2:c.294+34_294+35del	NP_001160060.1:n.294+34_294+35del
NM_001261418.1:c.294+34_294+35del	NP_001248347.1:n.294+34_294+35del
NM_020365.4:c.294+34_294+35del	NP_065098.1:n.294+34_294+35del
XM_011542396.1:c.294+34_294+35del	XP_011540698.1:n.294+34_294+35del
XM_017002745.2:c.294+34_294+35del	XP_016858234.1:n.294+34_294+35del
XM_017002746.1:c.-161+34_-161+35del	XP_016858235.1:n.-161+34_-161+35del
XM_017002747.1:c.-161+34_-161+35del	XP_016858236.1:n.-161+34_-161+35del
NM_020365.5:c.294+34_294+35del MANE Select	NP_065098.1:n.294+34_294+35del
NM_001166588.3:c.294+34_294+35del	NP_001160060.1:n.294+34_294+35del
NM_001261418.2:c.294+34_294+35del	NP_001248347.1:n.294+34_294+35del