Canonical Allele Identifier: CA1327046387
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730457_214730477delinsTCATACTTTTCTTCCTGTTCA , CM000664.2:g.214730457_214730477delinsTCATACTTTTCTTCCTGTTCA GRCh38
NC_000002.11:g.215595181_215595201delinsTCATACTTTTCTTCCTGTTCA , CM000664.1:g.215595181_215595201delinsTCATACTTTTCTTCCTGTTCA GRCh37
NC_000002.10:g.215303426_215303446delinsTCATACTTTTCTTCCTGTTCA NCBI36
NG_012047.2:g.84228_84248delinsTGAACAGGAAGAAAAGTATGA
NG_012047.3:g.84235_84255delinsTGAACAGGAAGAAAAGTATGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1935_1955delinsTGAACAGGAAGAAAAGTATGA MANE Select ENSP00000260947.4:p.Cys645=
ENST00000421162.2:c.582_602delinsTGAACAGGAAGAAAAGTATGA ENSP00000392245.2:p.Cys194=
ENST00000613192.2:c.190_*18delinsTGAACAGGAAGAAAAGTATGA ENSP00000483275.2:n.[c.190_*18delinsTGAACAGGAAGAAAAGTATGA;Ter...
ENST00000613374.5:c.525_545delinsTGAACAGGAAGAAAAGTATGA ENSP00000484464.1:p.Cys175=
ENST00000613706.5:c.1527_1547delinsTGAACAGGAAGAAAAGTATGA ENSP00000484976.2:p.Cys509=
ENST00000617164.5:c.1878_1898delinsTGAACAGGAAGAAAAGTATGA ENSP00000480470.1:p.Cys626=
ENST00000619009.5:c.396_416delinsTGAACAGGAAGAAAAGTATGA ENSP00000482293.1:p.Cys132=
ENST00000650978.1:c.3310_3330delinsTGAACAGGAAGAAAAGTATGA
ENST00000260947.8:c.1935_1955delinsTGAACAGGAAGAAAAGTATGA ENSP00000260947.4:p.Cys645=
ENST00000421162.1:c.582_602delinsTGAACAGGAAGAAAAGTATGA ENSP00000392245.1:p.Cys194=
ENST00000432456.5:c.32_52delinsTGAACAGGAAGAAAAGTATGA
ENST00000455743.5:c.*1555_*1575delinsTGAACAGGAAGAAAAGTATGA ENSP00000412186.1:n.*1555_*1575delinsTGAACAGGAAGAAAAGTATGA
ENST00000471590.5:n.270_290delinsTGAACAGGAAGAAAAGTATGA
ENST00000613192.1:c.105_125delinsTGAACAGGAAGAAAAGTATGA ENSP00000483275.1:p.Cys35=
ENST00000613374.4:c.525_545delinsTGAACAGGAAGAAAAGTATGA ENSP00000484464.1:p.Cys175=
ENST00000613706.4:c.582_602delinsTGAACAGGAAGAAAAGTATGA ENSP00000484976.1:p.Cys194=
ENST00000617164.4:c.1878_1898delinsTGAACAGGAAGAAAAGTATGA ENSP00000480470.1:p.Cys626=
ENST00000619009.4:c.396_416delinsTGAACAGGAAGAAAAGTATGA ENSP00000482293.1:p.Cys132=
ENST00000620057.4:c.*601_*621delinsTGAACAGGAAGAAAAGTATGA ENSP00000481988.1:n.*601_*621delinsTGAACAGGAAGAAAAGTATGA
NM_000465.3:c.1935_1955delinsTGAACAGGAAGAAAAGTATGA NP_000456.2:p.Cys645=
NM_001282543.1:c.1878_1898delinsTGAACAGGAAGAAAAGTATGA NP_001269472.1:p.Cys626=
NM_001282545.1:c.582_602delinsTGAACAGGAAGAAAAGTATGA NP_001269474.1:p.Cys194=
NM_001282548.1:c.525_545delinsTGAACAGGAAGAAAAGTATGA NP_001269477.1:p.Cys175=
NM_001282549.1:c.396_416delinsTGAACAGGAAGAAAAGTATGA NP_001269478.1:p.Cys132=
NR_104212.1:n.1928_1948delinsTGAACAGGAAGAAAAGTATGA
NR_104215.1:n.1871_1891delinsTGAACAGGAAGAAAAGTATGA
NR_104216.1:n.1127_1147delinsTGAACAGGAAGAAAAGTATGA
XM_011511567.1:c.1881_1901delinsTGAACAGGAAGAAAAGTATGA XP_011509869.1:p.Cys627=
XM_017004613.1:c.2034_2054delinsTGAACAGGAAGAAAAGTATGA XP_016860102.1:p.Cys678=
XR_002959322.1:n.2125_2145delinsTGAACAGGAAGAAAAGTATGA
NM_000465.4:c.1935_1955delinsTGAACAGGAAGAAAAGTATGA MANE Select NP_000456.2:p.Cys645=
NM_001282543.2:c.1878_1898delinsTGAACAGGAAGAAAAGTATGA NP_001269472.1:p.Cys626=
NM_001282545.2:c.582_602delinsTGAACAGGAAGAAAAGTATGA NP_001269474.1:p.Cys194=
NM_001282548.2:c.525_545delinsTGAACAGGAAGAAAAGTATGA NP_001269477.1:p.Cys175=
NM_001282549.2:c.396_416delinsTGAACAGGAAGAAAAGTATGA NP_001269478.1:p.Cys132=
NR_104212.2:n.1900_1920delinsTGAACAGGAAGAAAAGTATGA
NR_104215.2:n.1843_1863delinsTGAACAGGAAGAAAAGTATGA
NR_104216.2:n.1099_1119delinsTGAACAGGAAGAAAAGTATGA