Canonical Allele Identifier: CA1327046358
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730421C= , CM000664.2:g.214730421C= GRCh38
NC_000002.11:g.215595145C= , CM000664.1:g.215595145C= GRCh37
NC_000002.10:g.215303390C= NCBI36
NG_012047.2:g.84284G=
NG_012047.3:g.84291G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1991G= MANE Select ENSP00000260947.4:p.Arg664=
ENST00000421162.2:c.638G= ENSP00000392245.2:p.Arg213=
ENST00000613192.2:c.*54G= ENSP00000483275.2:n.*54G=
ENST00000613374.5:c.581G= ENSP00000484464.1:p.Arg194=
ENST00000613706.5:c.1583G= ENSP00000484976.2:p.Arg528=
ENST00000617164.5:c.1934G= ENSP00000480470.1:p.Arg645=
ENST00000619009.5:c.452G= ENSP00000482293.1:p.Arg151=
ENST00000650978.1:c.3366G=
ENST00000260947.8:c.1991G= ENSP00000260947.4:p.Arg664=
ENST00000421162.1:c.638G= ENSP00000392245.1:p.Arg213=
ENST00000432456.5:c.88G=
ENST00000455743.5:c.*1611G= ENSP00000412186.1:n.*1611G=
ENST00000471590.5:n.326G=
ENST00000613192.1:c.161G= ENSP00000483275.1:p.Arg54=
ENST00000613374.4:c.581G= ENSP00000484464.1:p.Arg194=
ENST00000613706.4:c.638G= ENSP00000484976.1:p.Arg213=
ENST00000617164.4:c.1934G= ENSP00000480470.1:p.Arg645=
ENST00000619009.4:c.452G= ENSP00000482293.1:p.Arg151=
ENST00000620057.4:c.*657G= ENSP00000481988.1:n.*657G=
NM_000465.3:c.1991G= NP_000456.2:p.Arg664=
NM_001282543.1:c.1934G= NP_001269472.1:p.Arg645=
NM_001282545.1:c.638G= NP_001269474.1:p.Arg213=
NM_001282548.1:c.581G= NP_001269477.1:p.Arg194=
NM_001282549.1:c.452G= NP_001269478.1:p.Arg151=
NR_104212.1:n.1984G=
NR_104215.1:n.1927G=
NR_104216.1:n.1183G=
XM_011511567.1:c.1937G= XP_011509869.1:p.Arg646=
XM_017004613.1:c.2090G= XP_016860102.1:p.Arg697=
XR_002959322.1:n.2181G=
NM_000465.4:c.1991G= MANE Select NP_000456.2:p.Arg664=
NM_001282543.2:c.1934G= NP_001269472.1:p.Arg645=
NM_001282545.2:c.638G= NP_001269474.1:p.Arg213=
NM_001282548.2:c.581G= NP_001269477.1:p.Arg194=
NM_001282549.2:c.452G= NP_001269478.1:p.Arg151=
NR_104212.2:n.1956G=
NR_104215.2:n.1899G=
NR_104216.2:n.1155G=