Canonical Allele Identifier: CA1327053651
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745744T= , CM000664.2:g.214745744T= GRCh38
NC_000002.11:g.215610468T= , CM000664.1:g.215610468T= GRCh37
NC_000002.10:g.215318713T= NCBI36
NG_012047.2:g.68961A=
NG_012047.3:g.68968A=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1788A= MANE Select ENSP00000260947.4:p.Lys596=
ENST00000421162.2:c.435A= ENSP00000392245.2:p.Lys145=
ENST00000613192.2:c.159-15236A= ENSP00000483275.2:n.159-15236A=
ENST00000613374.5:c.378A= ENSP00000484464.1:p.Lys126=
ENST00000613706.5:c.1380A= ENSP00000484976.2:p.Lys460=
ENST00000617164.5:c.1731A= ENSP00000480470.1:p.Lys577=
ENST00000619009.5:c.365-15236A= ENSP00000482293.1:n.365-15236A=
ENST00000650978.1:c.3163A=
ENST00000260947.8:c.1788A= ENSP00000260947.4:p.Lys596=
ENST00000421162.1:c.435A= ENSP00000392245.1:p.Lys145=
ENST00000455743.5:c.*1408A= ENSP00000412186.1:n.*1408A=
ENST00000465841.1:n.143A=
ENST00000613192.1:c.74-15236A= ENSP00000483275.1:n.74-15236A=
ENST00000613374.4:c.378A= ENSP00000484464.1:p.Lys126=
ENST00000613706.4:c.435A= ENSP00000484976.1:p.Lys145=
ENST00000617164.4:c.1731A= ENSP00000480470.1:p.Lys577=
ENST00000619009.4:c.365-15236A= ENSP00000482293.1:n.365-15236A=
ENST00000620057.4:c.*454A= ENSP00000481988.1:n.*454A=
NM_000465.3:c.1788A= NP_000456.2:p.Lys596=
NM_001282543.1:c.1731A= NP_001269472.1:p.Lys577=
NM_001282545.1:c.435A= NP_001269474.1:p.Lys145=
NM_001282548.1:c.378A= NP_001269477.1:p.Lys126=
NM_001282549.1:c.365-15236A= NP_001269478.1:n.365-15236A=
NR_104212.1:n.1781A=
NR_104215.1:n.1724A=
NR_104216.1:n.980A=
XM_011511567.1:c.1734A= XP_011509869.1:p.Lys578=
XM_011511568.1:c.1788A= XP_011509870.1:p.Lys596=
XM_017004613.1:c.1887A= XP_016860102.1:p.Lys629=
XM_017004614.1:c.1887A= XP_016860103.1:p.Lys629=
XR_002959322.1:n.1978A=
NM_000465.4:c.1788A= MANE Select NP_000456.2:p.Lys596=
NM_001282543.2:c.1731A= NP_001269472.1:p.Lys577=
NM_001282545.2:c.435A= NP_001269474.1:p.Lys145=
NM_001282548.2:c.378A= NP_001269477.1:p.Lys126=
NM_001282549.2:c.365-15236A= NP_001269478.1:n.365-15236A=
NR_104212.2:n.1753A=
NR_104215.2:n.1696A=
NR_104216.2:n.952A=