Canonical Allele Identifier: CA522559815

Gene: EIF2B3

Linked Data

• dbSNP Id: rs1557714993
• gnomAD v2: 1-45443969-CA-C
• gnomAD v4: 1-44978297-CA-C
• MyVariant Identifiers: chr1:g.45443970del (hg19) ; chr1:g.44978298del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978303del , CM000663.2:g.44978303del	GRCh38
NC_000001.10:g.45443975del , CM000663.1:g.45443975del	GRCh37
NC_000001.9:g.45216562del	NCBI36
NG_015864.1:g.13392del

Transcript Alleles

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