Canonical Allele Identifier: CA1327046394
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730464T= , CM000664.2:g.214730464T= GRCh38
NC_000002.11:g.215595188T= , CM000664.1:g.215595188T= GRCh37
NC_000002.10:g.215303433T= NCBI36
NG_012047.2:g.84241A=
NG_012047.3:g.84248A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1948A= MANE Select ENSP00000260947.4:p.Lys650=
ENST00000421162.2:c.595A= ENSP00000392245.2:p.Lys199=
ENST00000613192.2:c.*11A= ENSP00000483275.2:n.*11A=
ENST00000613374.5:c.538A= ENSP00000484464.1:p.Lys180=
ENST00000613706.5:c.1540A= ENSP00000484976.2:p.Lys514=
ENST00000617164.5:c.1891A= ENSP00000480470.1:p.Lys631=
ENST00000619009.5:c.409A= ENSP00000482293.1:p.Lys137=
ENST00000650978.1:c.3323A=
ENST00000260947.8:c.1948A= ENSP00000260947.4:p.Lys650=
ENST00000421162.1:c.595A= ENSP00000392245.1:p.Lys199=
ENST00000432456.5:c.45A=
ENST00000455743.5:c.*1568A= ENSP00000412186.1:n.*1568A=
ENST00000471590.5:n.283A=
ENST00000613192.1:c.118A= ENSP00000483275.1:p.Lys40=
ENST00000613374.4:c.538A= ENSP00000484464.1:p.Lys180=
ENST00000613706.4:c.595A= ENSP00000484976.1:p.Lys199=
ENST00000617164.4:c.1891A= ENSP00000480470.1:p.Lys631=
ENST00000619009.4:c.409A= ENSP00000482293.1:p.Lys137=
ENST00000620057.4:c.*614A= ENSP00000481988.1:n.*614A=
NM_000465.3:c.1948A= NP_000456.2:p.Lys650=
NM_001282543.1:c.1891A= NP_001269472.1:p.Lys631=
NM_001282545.1:c.595A= NP_001269474.1:p.Lys199=
NM_001282548.1:c.538A= NP_001269477.1:p.Lys180=
NM_001282549.1:c.409A= NP_001269478.1:p.Lys137=
NR_104212.1:n.1941A=
NR_104215.1:n.1884A=
NR_104216.1:n.1140A=
XM_011511567.1:c.1894A= XP_011509869.1:p.Lys632=
XM_017004613.1:c.2047A= XP_016860102.1:p.Lys683=
XR_002959322.1:n.2138A=
NM_000465.4:c.1948A= MANE Select NP_000456.2:p.Lys650=
NM_001282543.2:c.1891A= NP_001269472.1:p.Lys631=
NM_001282545.2:c.595A= NP_001269474.1:p.Lys199=
NM_001282548.2:c.538A= NP_001269477.1:p.Lys180=
NM_001282549.2:c.409A= NP_001269478.1:p.Lys137=
NR_104212.2:n.1913A=
NR_104215.2:n.1856A=
NR_104216.2:n.1112A=