Canonical Allele Identifier: CA1001217298

Gene: EIF2B3

Linked Data

• gnomAD v3: 1-44978621-C-CTTTTTTTTTTTTTTTTTTATTTT
• gnomAD v4: 1-44978621-C-CTTTTTTTTTTTTTTTTTTATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978639_44978640insATTTTTTTTTTTTTTTTTTTTTT , CM000663.2:g.44978639_44978640insATTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000001.10:g.45444311_45444312insATTTTTTTTTTTTTTTTTTTTTT , CM000663.1:g.45444311_45444312insATTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000001.9:g.45216898_45216899insATTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_015864.1:g.13068_13069insAAAATAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000353575.2:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA...
ENST00000360403.6:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	ENSP00000353575.2:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA...
ENST00000372182.6:n.262-162_262-161insAAAATAAAAAAAAAAAAAAAAAA
ENST00000372183.7:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	ENSP00000361257.3:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA...
ENST00000477953.5:n.252-162_252-161insAAAATAAAAAAAAAAAAAAAAAA
ENST00000480675.5:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	ENSP00000485842.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA...
ENST00000487532.5:n.261-162_261-161insAAAATAAAAAAAAAAAAAAAAAA
ENST00000497010.1:n.261-162_261-161insAAAATAAAAAAAAAAAAAAAAAA
ENST00000620860.4:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	ENSP00000483996.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA...
NM_001166588.2:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	NP_001160060.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA
NM_001261418.1:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	NP_001248347.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA
NM_020365.4:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	NP_065098.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA
XM_011542396.1:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	XP_011540698.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA
XM_017002745.2:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	XP_016858234.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA
XM_017002746.1:c.-306-162_-306-161insAAAATAAAAAAAAAAAAAAAAAA	XP_016858235.1:n.-306-162_-306-161insAAAATAAAAAAAAAAAAAAAAAA
XM_017002747.1:c.-306-162_-306-161insAAAATAAAAAAAAAAAAAAAAAA	XP_016858236.1:n.-306-162_-306-161insAAAATAAAAAAAAAAAAAAAAAA
NM_020365.5:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA MANE Select	NP_065098.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA
NM_001166588.3:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	NP_001160060.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA
NM_001261418.2:c.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA	NP_001248347.1:n.149-162_149-161insAAAATAAAAAAAAAAAAAAAAAA