Canonical Allele Identifier: CA1327046404
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730478_214730480delinsCAT , CM000664.2:g.214730478_214730480delinsCAT GRCh38
NC_000002.11:g.215595202_215595204delinsCAT , CM000664.1:g.215595202_215595204delinsCAT GRCh37
NC_000002.10:g.215303447_215303449delinsCAT NCBI36
NG_012047.2:g.84225_84227delinsATG
NG_012047.3:g.84232_84234delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1932_1934delinsATG MANE Select ENSP00000260947.4:p.Val644=
ENST00000421162.2:c.579_581delinsATG ENSP00000392245.2:p.Val193=
ENST00000613192.2:c.187_189delinsATG ENSP00000483275.2:p.Met63=
ENST00000613374.5:c.522_524delinsATG ENSP00000484464.1:p.Val174=
ENST00000613706.5:c.1524_1526delinsATG ENSP00000484976.2:p.Val508=
ENST00000617164.5:c.1875_1877delinsATG ENSP00000480470.1:p.Val625=
ENST00000619009.5:c.393_395delinsATG ENSP00000482293.1:p.Val131=
ENST00000650978.1:c.3307_3309delinsATG
ENST00000260947.8:c.1932_1934delinsATG ENSP00000260947.4:p.Val644=
ENST00000421162.1:c.579_581delinsATG ENSP00000392245.1:p.Val193=
ENST00000432456.5:c.29_31delinsATG
ENST00000455743.5:c.*1552_*1554delinsATG ENSP00000412186.1:n.*1552_*1554delinsATG
ENST00000471590.5:n.267_269delinsATG
ENST00000613192.1:c.102_104delinsATG ENSP00000483275.1:p.Val34=
ENST00000613374.4:c.522_524delinsATG ENSP00000484464.1:p.Val174=
ENST00000613706.4:c.579_581delinsATG ENSP00000484976.1:p.Val193=
ENST00000617164.4:c.1875_1877delinsATG ENSP00000480470.1:p.Val625=
ENST00000619009.4:c.393_395delinsATG ENSP00000482293.1:p.Val131=
ENST00000620057.4:c.*598_*600delinsATG ENSP00000481988.1:n.*598_*600delinsATG
NM_000465.3:c.1932_1934delinsATG NP_000456.2:p.Val644=
NM_001282543.1:c.1875_1877delinsATG NP_001269472.1:p.Val625=
NM_001282545.1:c.579_581delinsATG NP_001269474.1:p.Val193=
NM_001282548.1:c.522_524delinsATG NP_001269477.1:p.Val174=
NM_001282549.1:c.393_395delinsATG NP_001269478.1:p.Val131=
NR_104212.1:n.1925_1927delinsATG
NR_104215.1:n.1868_1870delinsATG
NR_104216.1:n.1124_1126delinsATG
XM_011511567.1:c.1878_1880delinsATG XP_011509869.1:p.Val626=
XM_017004613.1:c.2031_2033delinsATG XP_016860102.1:p.Val677=
XR_002959322.1:n.2122_2124delinsATG
NM_000465.4:c.1932_1934delinsATG MANE Select NP_000456.2:p.Val644=
NM_001282543.2:c.1875_1877delinsATG NP_001269472.1:p.Val625=
NM_001282545.2:c.579_581delinsATG NP_001269474.1:p.Val193=
NM_001282548.2:c.522_524delinsATG NP_001269477.1:p.Val174=
NM_001282549.2:c.393_395delinsATG NP_001269478.1:p.Val131=
NR_104212.2:n.1897_1899delinsATG
NR_104215.2:n.1840_1842delinsATG
NR_104216.2:n.1096_1098delinsATG