Canonical Allele Identifier: CA2740366923
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728717_214728718insAGTGTTAATGGGAGTGAAAAAGAGGCCTTTGAAGAGAGCATTTGCTGCAAA , CM000664.2:g.214728717_214728718insAGTGTTAATGGGAGTGAAAAAGAGGCCTTTGAAGAGAGCATTTGCTGCAAA GRCh38
NC_000002.11:g.215593441_215593442insAGTGTTAATGGGAGTGAAAAAGAGGCCTTTGAAGAGAGCATTTGCTGCAAA , CM000664.1:g.215593441_215593442insAGTGTTAATGGGAGTGAAAAAGAGGCCTTTGAAGAGAGCATTTGCTGCAAA GRCh37
NC_000002.10:g.215301686_215301687insAGTGTTAATGGGAGTGAAAAAGAGGCCTTTGAAGAGAGCATTTGCTGCAAA NCBI36
NG_012047.2:g.85987_85988insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
NG_012047.3:g.85994_85995insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2292_2293insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT MANE Select ENSP00000260947.4:p.Ile764_Asp765insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000421162.2:c.939_940insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000392245.2:p.Ile313_Asp314insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000613192.2:c.*355_*356insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000483275.2:n.*355_*356insTTTGCAGCAAATGCTCTCTTCAAAGGCCT...
ENST00000613374.5:c.882_883insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000484464.1:p.Ile294_Asp295insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000613706.5:c.1884_1885insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000484976.2:p.Ile628_Asp629insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000617164.5:c.2235_2236insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000480470.1:p.Ile745_Asp746insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000619009.5:c.753_754insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000482293.1:p.Ile251_Asp252insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000650978.1:c.3667_3668insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
ENST00000260947.8:c.2292_2293insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000260947.4:p.Ile764_Asp765insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000432456.5:c.435_436insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
ENST00000455743.5:c.*1912_*1913insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000412186.1:n.*1912_*1913insTTTGCAGCAAATGCTCTCTTCAAAGGC...
ENST00000471590.5:n.627_628insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
ENST00000613192.1:c.462_463insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000483275.1:p.Ile154_Asp155insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000613374.4:c.882_883insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000484464.1:p.Ile294_Asp295insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000613706.4:c.939_940insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000484976.1:p.Ile313_Asp314insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000617164.4:c.2235_2236insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000480470.1:p.Ile745_Asp746insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000619009.4:c.753_754insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000482293.1:p.Ile251_Asp252insPheAlaAlaAsnAlaLeuPheLysG...
ENST00000620057.4:c.*958_*959insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT ENSP00000481988.1:n.*958_*959insTTTGCAGCAAATGCTCTCTTCAAAGGCCT...
NM_000465.3:c.2292_2293insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_000456.2:p.Ile764_Asp765insPheAlaAlaAsnAlaLeuPheLysGlyLeuP...
NM_001282543.1:c.2235_2236insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269472.1:p.Ile745_Asp746insPheAlaAlaAsnAlaLeuPheLysGlyL...
NM_001282545.1:c.939_940insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269474.1:p.Ile313_Asp314insPheAlaAlaAsnAlaLeuPheLysGlyL...
NM_001282548.1:c.882_883insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269477.1:p.Ile294_Asp295insPheAlaAlaAsnAlaLeuPheLysGlyL...
NM_001282549.1:c.753_754insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269478.1:p.Ile251_Asp252insPheAlaAlaAsnAlaLeuPheLysGlyL...
NR_104212.1:n.2285_2286insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
NR_104215.1:n.2228_2229insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
NR_104216.1:n.1484_1485insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
XM_011511567.1:c.2238_2239insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT XP_011509869.1:p.Ile746_Asp747insPheAlaAlaAsnAlaLeuPheLysGlyL...
XM_017004613.1:c.2391_2392insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT XP_016860102.1:p.Ile797_Asp798insPheAlaAlaAsnAlaLeuPheLysGlyL...
XR_002959322.1:n.2658_2659insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
NM_000465.4:c.2292_2293insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT MANE Select NP_000456.2:p.Ile764_Asp765insPheAlaAlaAsnAlaLeuPheLysGlyLeuP...
NM_001282543.2:c.2235_2236insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269472.1:p.Ile745_Asp746insPheAlaAlaAsnAlaLeuPheLysGlyL...
NM_001282545.2:c.939_940insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269474.1:p.Ile313_Asp314insPheAlaAlaAsnAlaLeuPheLysGlyL...
NM_001282548.2:c.882_883insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269477.1:p.Ile294_Asp295insPheAlaAlaAsnAlaLeuPheLysGlyL...
NM_001282549.2:c.753_754insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT NP_001269478.1:p.Ile251_Asp252insPheAlaAlaAsnAlaLeuPheLysGlyL...
NR_104212.2:n.2257_2258insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
NR_104215.2:n.2200_2201insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT
NR_104216.2:n.1456_1457insTTTGCAGCAAATGCTCTCTTCAAAGGCCTCTTTTTCACTCCCATTAACACT