Canonical Allele Identifier: CA2753164388
Gene: CYBRD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.171554663del , CM000664.2:g.171554663del GRCh38
NC_000002.11:g.172411173del , CM000664.1:g.172411173del GRCh37
NC_000002.10:g.172119419del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000321348.9:c.697del MANE Select ENSP00000319141.4:p.Thr233ProfsTer?
ENST00000321348.8:c.697del ENSP00000319141.4:p.Thr233ProfsTer?
ENST00000375252.3:c.*14del ENSP00000364401.3:n.*14del
ENST00000409484.5:c.523del ENSP00000386739.1:p.Thr175ProfsTer?
NM_001127383.1:c.*14del NP_001120855.1:n.*14del
NM_001256909.1:c.523del NP_001243838.1:p.Thr175ProfsTer?
NM_024843.3:c.697del NP_079119.3:p.Thr233ProfsTer?
NM_024843.4:c.697del MANE Select NP_079119.3:p.Thr233ProfsTer?
NM_001127383.2:c.*14del NP_001120855.1:n.*14del
NM_001256909.2:c.523del NP_001243838.1:p.Thr175ProfsTer?