Canonical Allele Identifier: CA2621687211

Gene: EIF2B1

Linked Data

• gnomAD v4: 12-123630341-T-TTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123630341_123630342insTTA , CM000674.2:g.123630341_123630342insTTA	GRCh38
NC_000012.11:g.124114888_124114889insTTA , CM000674.1:g.124114888_124114889insTTA	GRCh37
NC_000012.10:g.122680841_122680842insTTA	NCBI36
NG_015862.1:g.8435_8436insTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000424014.7:c.252+55_253-56insTAA MANE Select	ENSP00000416250.2:n.252+55_253-56insTAA
ENST00000424014.6:c.252+55_253-56insTAA	ENSP00000416250.2:n.252+55_253-56insTAA
ENST00000452159.6:n.383+55_384-56insTAA
ENST00000534960.5:c.299+55_300-56insTAA
ENST00000537073.1:c.252+55_253-56insTAA	ENSP00000444183.1:n.252+55_253-56insTAA
ENST00000539951.5:c.213+55_214-56insTAA	ENSP00000438060.1:n.213+55_214-56insTAA
ENST00000543940.1:n.353-38_353-37insTAA
NM_001414.3:c.252+55_253-56insTAA	NP_001405.1:n.252+55_253-56insTAA
NM_001414.4:c.252+55_253-56insTAA MANE Select	NP_001405.1:n.252+55_253-56insTAA