Canonical Allele Identifier: CA168527
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142499
dbSNP Id: rs587782504

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730480_214730481del , CM000664.2:g.214730480_214730481del GRCh38
NC_000002.11:g.215595204_215595205del , CM000664.1:g.215595204_215595205del GRCh37
NC_000002.10:g.215303449_215303450del NCBI36
NG_012047.2:g.84225_84226del
NG_012047.3:g.84232_84233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1932_1933del MANE Select ENSP00000260947.4:p.Cys645Ter
ENST00000421162.2:c.579_580del ENSP00000392245.2:p.Cys194Ter
ENST00000613192.2:c.187_188del ENSP00000483275.2:p.Met63ValfsTer?
ENST00000613374.5:c.522_523del ENSP00000484464.1:p.Cys175Ter
ENST00000613706.5:c.1524_1525del ENSP00000484976.2:p.Cys509Ter
ENST00000617164.5:c.1875_1876del ENSP00000480470.1:p.Cys626Ter
ENST00000619009.5:c.393_394del ENSP00000482293.1:p.Cys132Ter
ENST00000650978.1:c.3307_3308del
ENST00000260947.8:c.1932_1933del ENSP00000260947.4:p.Cys645Ter
ENST00000421162.1:c.579_580del ENSP00000392245.1:p.Cys194Ter
ENST00000432456.5:c.29_30del
ENST00000455743.5:c.*1552_*1553del ENSP00000412186.1:n.*1552_*1553del
ENST00000471590.5:n.267_268del
ENST00000613192.1:c.102_103del ENSP00000483275.1:p.Cys35Ter
ENST00000613374.4:c.522_523del ENSP00000484464.1:p.Cys175Ter
ENST00000613706.4:c.579_580del ENSP00000484976.1:p.Cys194Ter
ENST00000617164.4:c.1875_1876del ENSP00000480470.1:p.Cys626Ter
ENST00000619009.4:c.393_394del ENSP00000482293.1:p.Cys132Ter
ENST00000620057.4:c.*598_*599del ENSP00000481988.1:n.*598_*599del
NM_000465.3:c.1932_1933del NP_000456.2:p.Cys645Ter
NM_001282543.1:c.1875_1876del NP_001269472.1:p.Cys626Ter
NM_001282545.1:c.579_580del NP_001269474.1:p.Cys194Ter
NM_001282548.1:c.522_523del NP_001269477.1:p.Cys175Ter
NM_001282549.1:c.393_394del NP_001269478.1:p.Cys132Ter
NR_104212.1:n.1925_1926del
NR_104215.1:n.1868_1869del
NR_104216.1:n.1124_1125del
XM_011511567.1:c.1878_1879del XP_011509869.1:p.Cys627Ter
XM_017004613.1:c.2031_2032del XP_016860102.1:p.Cys678Ter
XR_002959322.1:n.2122_2123del
NM_000465.4:c.1932_1933del MANE Select NP_000456.2:p.Cys645Ter
NM_001282543.2:c.1875_1876del NP_001269472.1:p.Cys626Ter
NM_001282545.2:c.579_580del NP_001269474.1:p.Cys194Ter
NM_001282548.2:c.522_523del NP_001269477.1:p.Cys175Ter
NM_001282549.2:c.393_394del NP_001269478.1:p.Cys132Ter
NR_104212.2:n.1897_1898del
NR_104215.2:n.1840_1841del
NR_104216.2:n.1096_1097del