Canonical Allele Identifier: CA3249309845
Community Standard Title: NM_000465.4(BARD1):c.1906_1908del (p.Val636del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730504_214730506del , CM000664.2:g.214730504_214730506del GRCh38
NC_000002.11:g.215595228_215595230del , CM000664.1:g.215595228_215595230del GRCh37
NC_000002.10:g.215303473_215303475del NCBI36
NG_012047.2:g.84199_84201del
NG_012047.3:g.84206_84208del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1906_1908del MANE Select NP_000456.2:p.Val636del
ENST00000260947.9:c.1906_1908del MANE Select ENSP00000260947.4:p.Val636del
NM_000465.3:c.1906_1908del NP_000456.2:p.Val636del
NM_001282543.1:c.1849_1851del NP_001269472.1:p.Val617del
NM_001282543.2:c.1849_1851del NP_001269472.1:p.Val617del
NM_001282545.1:c.553_555del NP_001269474.1:p.Val185del
NM_001282545.2:c.553_555del NP_001269474.1:p.Val185del
NM_001282548.1:c.496_498del NP_001269477.1:p.Val166del
NM_001282548.2:c.496_498del NP_001269477.1:p.Val166del
NM_001282549.1:c.367_369del NP_001269478.1:p.Val123del
NM_001282549.2:c.367_369del NP_001269478.1:p.Val123del
NR_104212.1:n.1899_1901del
NR_104212.2:n.1871_1873del
NR_104215.1:n.1842_1844del
NR_104215.2:n.1814_1816del
NR_104216.1:n.1098_1100del
NR_104216.2:n.1070_1072del
ENST00000260947.8:c.1906_1908del ENSP00000260947.4:p.Val636del
ENST00000421162.1:c.553_555del ENSP00000392245.1:p.Val185del
ENST00000421162.2:c.553_555del ENSP00000392245.2:p.Val185del
ENST00000432456.5:c.3_5del
ENST00000455743.5:c.*1526_*1528del ENSP00000412186.1:n.*1526_*1528del
ENST00000471590.5:n.241_243del
ENST00000613192.1:c.76_78del ENSP00000483275.1:p.Val26del
ENST00000613192.2:c.161_163del ENSP00000483275.2:p.Gly54_Lys55delinsGlu
ENST00000613374.4:c.496_498del ENSP00000484464.1:p.Val166del
ENST00000613374.5:c.496_498del ENSP00000484464.1:p.Val166del
ENST00000613706.4:c.553_555del ENSP00000484976.1:p.Val185del
ENST00000613706.5:c.1498_1500del ENSP00000484976.2:p.Val500del
ENST00000617164.4:c.1849_1851del ENSP00000480470.1:p.Val617del
ENST00000617164.5:c.1849_1851del ENSP00000480470.1:p.Val617del
ENST00000619009.4:c.367_369del ENSP00000482293.1:p.Val123del
ENST00000619009.5:c.367_369del ENSP00000482293.1:p.Val123del
ENST00000620057.4:c.*572_*574del ENSP00000481988.1:n.*572_*574del
ENST00000650978.1:c.3281_3283del
XM_011511567.1:c.1852_1854del XP_011509869.1:p.Val618del
XM_017004613.1:c.2005_2007del XP_016860102.1:p.Val669del
XR_002959322.1:n.2096_2098del