Canonical Allele Identifier: CA2779465072
Gene: EBF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.26034465_26034466del , CM000670.2:g.26034465_26034466del GRCh38
NC_000008.10:g.25891981_25891982del , CM000670.1:g.25891981_25891982del GRCh37
NC_000008.9:g.25947898_25947899del NCBI36
NG_030344.1:g.15660_15661del

Transcript Alleles

HGVS Amino-acid Change
ENST00000520164.6:c.483-1312_483-1311del MANE Select ENSP00000430241.1:n.483-1312_483-1311del
ENST00000408929.7:c.39-1312_39-1311del ENSP00000386178.3:n.39-1312_39-1311del
ENST00000517825.1:n.802-1312_802-1311del
ENST00000520164.5:c.483-1312_483-1311del ENSP00000430241.1:n.483-1312_483-1311del
NM_022659.3:c.483-1312_483-1311del NP_073150.2:n.483-1312_483-1311del
NM_022659.4:c.483-1312_483-1311del MANE Select NP_073150.2:n.483-1312_483-1311del