Canonical Allele Identifier: CA2577007274
Gene: BOLA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.74145293_74145294del , CM000664.2:g.74145293_74145294del GRCh38
NC_000002.11:g.74372420_74372421del , CM000664.1:g.74372420_74372421del GRCh37
NC_000002.10:g.74225928_74225929del NCBI36
NG_031910.1:g.7620_7621del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327428.10:c.65_66del MANE Select ENSP00000331369.5:p.His22ProfsTer9
ENST00000295326.4:c.65_66del ENSP00000295326.4:p.His22ProfsTer9
ENST00000327428.9:c.65_66del ENSP00000331369.5:p.His22ProfsTer9
ENST00000469676.1:n.1088_1089del
ENST00000477685.5:n.216_217del
ENST00000484655.1:n.2620_2621del
NM_001035505.1:c.65_66del NP_001030582.1:p.His22ProfsTer9
NM_212552.2:c.65_66del NP_997717.2:p.His22ProfsTer9
NM_212552.3:c.65_66del MANE Select NP_997717.2:p.His22ProfsTer9
NM_001035505.2:c.65_66del NP_001030582.1:p.His22ProfsTer9
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