Canonical Allele Identifier: CA2577007273
Gene: BOLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145282del , CM000664.2:g.74145282del GRCh38
NC_000002.11:g.74372409del , CM000664.1:g.74372409del GRCh37
NC_000002.10:g.74225917del NCBI36
NG_031910.1:g.7633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.78del MANE Select ENSP00000331369.5:p.Phe26LeufsTer11
ENST00000295326.4:c.78del ENSP00000295326.4:p.Phe26LeufsTer11
ENST00000327428.9:c.78del ENSP00000331369.5:p.Phe26LeufsTer11
ENST00000469676.1:n.1101del
ENST00000477685.5:n.229del
ENST00000484655.1:n.2633del
NM_001035505.1:c.78del NP_001030582.1:p.Phe26LeufsTer11
NM_212552.2:c.78del NP_997717.2:p.Phe26LeufsTer11
NM_212552.3:c.78del MANE Select NP_997717.2:p.Phe26LeufsTer11
NM_001035505.2:c.78del NP_001030582.1:p.Phe26LeufsTer11
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