Canonical Allele Identifier: CA1327053335
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745097G= , CM000664.2:g.214745097G= GRCh38
NC_000002.11:g.215609821G= , CM000664.1:g.215609821G= GRCh37
NC_000002.10:g.215318066G= NCBI36
NG_012047.2:g.69608C=
NG_012047.3:g.69615C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1873C= MANE Select ENSP00000260947.4:p.Leu625=
ENST00000421162.2:c.520C= ENSP00000392245.2:p.Leu174=
ENST00000613192.2:c.159-14589C= ENSP00000483275.2:n.159-14589C=
ENST00000613374.5:c.463C= ENSP00000484464.1:p.Leu155=
ENST00000613706.5:c.1465C= ENSP00000484976.2:p.Leu489=
ENST00000617164.5:c.1816C= ENSP00000480470.1:p.Leu606=
ENST00000619009.5:c.365-14589C= ENSP00000482293.1:n.365-14589C=
ENST00000650978.1:c.3248C=
ENST00000260947.8:c.1873C= ENSP00000260947.4:p.Leu625=
ENST00000421162.1:c.520C= ENSP00000392245.1:p.Leu174=
ENST00000455743.5:c.*1493C= ENSP00000412186.1:n.*1493C=
ENST00000613192.1:c.74-14589C= ENSP00000483275.1:n.74-14589C=
ENST00000613374.4:c.463C= ENSP00000484464.1:p.Leu155=
ENST00000613706.4:c.520C= ENSP00000484976.1:p.Leu174=
ENST00000617164.4:c.1816C= ENSP00000480470.1:p.Leu606=
ENST00000619009.4:c.365-14589C= ENSP00000482293.1:n.365-14589C=
ENST00000620057.4:c.*539C= ENSP00000481988.1:n.*539C=
NM_000465.3:c.1873C= NP_000456.2:p.Leu625=
NM_001282543.1:c.1816C= NP_001269472.1:p.Leu606=
NM_001282545.1:c.520C= NP_001269474.1:p.Leu174=
NM_001282548.1:c.463C= NP_001269477.1:p.Leu155=
NM_001282549.1:c.365-14589C= NP_001269478.1:n.365-14589C=
NR_104212.1:n.1866C=
NR_104215.1:n.1809C=
NR_104216.1:n.1065C=
XM_011511567.1:c.1819C= XP_011509869.1:p.Leu607=
XM_011511568.1:c.1873C= XP_011509870.1:p.Leu625=
XM_017004613.1:c.1972C= XP_016860102.1:p.Leu658=
XM_017004614.1:c.1972C= XP_016860103.1:p.Leu658=
XR_002959322.1:n.2063C=
NM_000465.4:c.1873C= MANE Select NP_000456.2:p.Leu625=
NM_001282543.2:c.1816C= NP_001269472.1:p.Leu606=
NM_001282545.2:c.520C= NP_001269474.1:p.Leu174=
NM_001282548.2:c.463C= NP_001269477.1:p.Leu155=
NM_001282549.2:c.365-14589C= NP_001269478.1:n.365-14589C=
NR_104212.2:n.1838C=
NR_104215.2:n.1781C=
NR_104216.2:n.1037C=