Canonical Allele Identifier: CA1001217313

Gene: EIF2B3

Linked Data

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

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978653_44978654insTTTCCCATAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.2:g.44978653_44978654insTTTCCCATAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000001.10:g.45444325_45444326insTTTCCCATAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.1:g.45444325_45444326insTTTCCCATAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000001.9:g.45216912_45216913insTTTCCCATAAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_015864.1:g.13068_13069insAAAAATTTTTATGGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

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