Canonical Allele Identifier: CA1112026714
Gene: EBF2 HGNC NCBI

Linked Data

dbSNP Id: rs1805463527
gnomAD v3: 8-26034465-CAACA-C
gnomAD v4: 8-26034465-CAACA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034470_26034473del , CM000670.2:g.26034470_26034473del GRCh38
NC_000008.10:g.25891986_25891989del , CM000670.1:g.25891986_25891989del GRCh37
NC_000008.9:g.25947903_25947906del NCBI36
NG_030344.1:g.15656_15659del

Transcript Alleles

HGVS Amino-acid change
ENST00000520164.6:c.483-1316_483-1313del MANE Select ENSP00000430241.1:n.483-1316_483-1313del
ENST00000408929.7:c.39-1316_39-1313del ENSP00000386178.3:n.39-1316_39-1313del
ENST00000517825.1:n.802-1316_802-1313del
ENST00000520164.5:c.483-1316_483-1313del ENSP00000430241.1:n.483-1316_483-1313del
NM_022659.3:c.483-1316_483-1313del NP_073150.2:n.483-1316_483-1313del
NM_022659.4:c.483-1316_483-1313del MANE Select NP_073150.2:n.483-1316_483-1313del
Search 100 bp 5'
Search 100 bp 3'