Canonical Allele Identifier: CA2701494411
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2106020730

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745755_214745756insGGGAGATGGCTGTATACTTTGCATCTTGTAATA , CM000664.2:g.214745755_214745756insGGGAGATGGCTGTATACTTTGCATCTTGTAATA GRCh38
NC_000002.11:g.215610479_215610480insGGGAGATGGCTGTATACTTTGCATCTTGTAATA , CM000664.1:g.215610479_215610480insGGGAGATGGCTGTATACTTTGCATCTTGTAATA GRCh37
NC_000002.10:g.215318724_215318725insGGGAGATGGCTGTATACTTTGCATCTTGTAATA NCBI36
NG_012047.2:g.68949_68950insTATTACAAGATGCAAAGTATACAGCCATCTCCC
NG_012047.3:g.68956_68957insTATTACAAGATGCAAAGTATACAGCCATCTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1776_1777insTATTACAAGATGCAAAGTATACAGCCATCTCCC MANE Select ENSP00000260947.4:p.Leu592_Lys593insTyrTyrLysMetGlnSerIleGlnP...
ENST00000421162.2:c.423_424insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000392245.2:p.Leu141_Lys142insTyrTyrLysMetGlnSerIleGlnP...
ENST00000613192.2:c.159-15248_159-15247insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000483275.2:n.159-15248_159-15247insTATTACAAGATGCAAAGTA...
ENST00000613374.5:c.366_367insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000484464.1:p.Leu122_Lys123insTyrTyrLysMetGlnSerIleGlnP...
ENST00000613706.5:c.1368_1369insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000484976.2:p.Leu456_Lys457insTyrTyrLysMetGlnSerIleGlnP...
ENST00000617164.5:c.1719_1720insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000480470.1:p.Leu573_Lys574insTyrTyrLysMetGlnSerIleGlnP...
ENST00000619009.5:c.365-15248_365-15247insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000482293.1:n.365-15248_365-15247insTATTACAAGATGCAAAGTA...
ENST00000650978.1:c.3151_3152insTATTACAAGATGCAAAGTATACAGCCATCTCCC
ENST00000260947.8:c.1776_1777insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000260947.4:p.Leu592_Lys593insTyrTyrLysMetGlnSerIleGlnP...
ENST00000421162.1:c.423_424insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000392245.1:p.Leu141_Lys142insTyrTyrLysMetGlnSerIleGlnP...
ENST00000455743.5:c.*1396_*1397insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000412186.1:n.*1396_*1397insTATTACAAGATGCAAAGTATACAGCCA...
ENST00000465841.1:n.131_132insTATTACAAGATGCAAAGTATACAGCCATCTCCC
ENST00000613192.1:c.74-15248_74-15247insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000483275.1:n.74-15248_74-15247insTATTACAAGATGCAAAGTATA...
ENST00000613374.4:c.366_367insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000484464.1:p.Leu122_Lys123insTyrTyrLysMetGlnSerIleGlnP...
ENST00000613706.4:c.423_424insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000484976.1:p.Leu141_Lys142insTyrTyrLysMetGlnSerIleGlnP...
ENST00000617164.4:c.1719_1720insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000480470.1:p.Leu573_Lys574insTyrTyrLysMetGlnSerIleGlnP...
ENST00000619009.4:c.365-15248_365-15247insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000482293.1:n.365-15248_365-15247insTATTACAAGATGCAAAGTA...
ENST00000620057.4:c.*442_*443insTATTACAAGATGCAAAGTATACAGCCATCTCCC ENSP00000481988.1:n.*442_*443insTATTACAAGATGCAAAGTATACAGCCATC...
NM_000465.3:c.1776_1777insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_000456.2:p.Leu592_Lys593insTyrTyrLysMetGlnSerIleGlnProSerP...
NM_001282543.1:c.1719_1720insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269472.1:p.Leu573_Lys574insTyrTyrLysMetGlnSerIleGlnProS...
NM_001282545.1:c.423_424insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269474.1:p.Leu141_Lys142insTyrTyrLysMetGlnSerIleGlnProS...
NM_001282548.1:c.366_367insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269477.1:p.Leu122_Lys123insTyrTyrLysMetGlnSerIleGlnProS...
NM_001282549.1:c.365-15248_365-15247insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269478.1:n.365-15248_365-15247insTATTACAAGATGCAAAGTATAC...
NR_104212.1:n.1769_1770insTATTACAAGATGCAAAGTATACAGCCATCTCCC
NR_104215.1:n.1712_1713insTATTACAAGATGCAAAGTATACAGCCATCTCCC
NR_104216.1:n.968_969insTATTACAAGATGCAAAGTATACAGCCATCTCCC
XM_011511567.1:c.1722_1723insTATTACAAGATGCAAAGTATACAGCCATCTCCC XP_011509869.1:p.Leu574_Lys575insTyrTyrLysMetGlnSerIleGlnProS...
XM_011511568.1:c.1776_1777insTATTACAAGATGCAAAGTATACAGCCATCTCCC XP_011509870.1:p.Leu592_Lys593insTyrTyrLysMetGlnSerIleGlnProS...
XM_017004613.1:c.1875_1876insTATTACAAGATGCAAAGTATACAGCCATCTCCC XP_016860102.1:p.Leu625_Lys626insTyrTyrLysMetGlnSerIleGlnProS...
XM_017004614.1:c.1875_1876insTATTACAAGATGCAAAGTATACAGCCATCTCCC XP_016860103.1:p.Leu625_Lys626insTyrTyrLysMetGlnSerIleGlnProS...
XR_002959322.1:n.1966_1967insTATTACAAGATGCAAAGTATACAGCCATCTCCC
NM_000465.4:c.1776_1777insTATTACAAGATGCAAAGTATACAGCCATCTCCC MANE Select NP_000456.2:p.Leu592_Lys593insTyrTyrLysMetGlnSerIleGlnProSerP...
NM_001282543.2:c.1719_1720insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269472.1:p.Leu573_Lys574insTyrTyrLysMetGlnSerIleGlnProS...
NM_001282545.2:c.423_424insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269474.1:p.Leu141_Lys142insTyrTyrLysMetGlnSerIleGlnProS...
NM_001282548.2:c.366_367insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269477.1:p.Leu122_Lys123insTyrTyrLysMetGlnSerIleGlnProS...
NM_001282549.2:c.365-15248_365-15247insTATTACAAGATGCAAAGTATACAGCCATCTCCC NP_001269478.1:n.365-15248_365-15247insTATTACAAGATGCAAAGTATAC...
NR_104212.2:n.1741_1742insTATTACAAGATGCAAAGTATACAGCCATCTCCC
NR_104215.2:n.1684_1685insTATTACAAGATGCAAAGTATACAGCCATCTCCC
NR_104216.2:n.940_941insTATTACAAGATGCAAAGTATACAGCCATCTCCC