Canonical Allele Identifier: CA2627751895
Gene: EIF2AK4 HGNC NCBI

Linked Data

gnomAD v4: 15-39978063-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39978066del , CM000677.2:g.39978066del GRCh38
NC_000015.9:g.40270267del , CM000677.1:g.40270267del GRCh37
NC_000015.8:g.38057559del NCBI36
NG_034053.1:g.48943del

Transcript Alleles

HGVS Amino-acid change
ENST00000263791.10:c.2250-12del MANE Select ENSP00000263791.5:n.2250-12del
ENST00000263791.9:c.2250-12del ENSP00000263791.5:n.2250-12del
ENST00000560855.5:c.1666-12del
ENST00000624709.1:n.1088del
NM_001013703.3:c.2250-12del NP_001013725.2:n.2250-12del
XM_005254392.1:c.2250-12del XP_005254449.1:n.2250-12del
XM_011521599.1:c.2250-12del XP_011519901.1:n.2250-12del
XM_011521600.1:c.2250-12del XP_011519902.1:n.2250-12del
XM_005254392.3:c.2250-12del XP_005254449.1:n.2250-12del
XM_011521599.2:c.2250-12del XP_011519901.1:n.2250-12del
XM_011521600.3:c.2250-12del XP_011519902.1:n.2250-12del
XM_017022219.2:c.2250-12del XP_016877708.1:n.2250-12del
NM_001013703.4:c.2250-12del MANE Select NP_001013725.2:n.2250-12del
Search 100 bp 5'
Search 100 bp 3'