Canonical Allele Identifier: CA2575675459
Gene: EIF2AK4 HGNC NCBI

Linked Data

gnomAD v4: 15-39978059-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.39978061_39978062del , CM000677.2:g.39978061_39978062del GRCh38
NC_000015.9:g.40270262_40270263del , CM000677.1:g.40270262_40270263del GRCh37
NC_000015.8:g.38057554_38057555del NCBI36
NG_034053.1:g.48938_48939del

Transcript Alleles

HGVS Amino-acid change
ENST00000263791.10:c.2250-17_2250-16del MANE Select ENSP00000263791.5:n.2250-17_2250-16del
ENST00000263791.9:c.2250-17_2250-16del ENSP00000263791.5:n.2250-17_2250-16del
ENST00000560855.5:c.1666-17_1666-16del
ENST00000624709.1:n.1083_1084del
NM_001013703.3:c.2250-17_2250-16del NP_001013725.2:n.2250-17_2250-16del
XM_005254392.1:c.2250-17_2250-16del XP_005254449.1:n.2250-17_2250-16del
XM_011521599.1:c.2250-17_2250-16del XP_011519901.1:n.2250-17_2250-16del
XM_011521600.1:c.2250-17_2250-16del XP_011519902.1:n.2250-17_2250-16del
XM_005254392.3:c.2250-17_2250-16del XP_005254449.1:n.2250-17_2250-16del
XM_011521599.2:c.2250-17_2250-16del XP_011519901.1:n.2250-17_2250-16del
XM_011521600.3:c.2250-17_2250-16del XP_011519902.1:n.2250-17_2250-16del
XM_017022219.2:c.2250-17_2250-16del XP_016877708.1:n.2250-17_2250-16del
NM_001013703.4:c.2250-17_2250-16del MANE Select NP_001013725.2:n.2250-17_2250-16del
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