Canonical Allele Identifier: CA1327046413
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730491_214730498delinsGTAGACAT , CM000664.2:g.214730491_214730498delinsGTAGACAT GRCh38
NC_000002.11:g.215595215_215595222delinsGTAGACAT , CM000664.1:g.215595215_215595222delinsGTAGACAT GRCh37
NC_000002.10:g.215303460_215303467delinsGTAGACAT NCBI36
NG_012047.2:g.84207_84214delinsATGTCTAC
NG_012047.3:g.84214_84221delinsATGTCTAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1914_1921delinsATGTCTAC MANE Select ENSP00000260947.4:p.Ala638=
ENST00000421162.2:c.561_568delinsATGTCTAC ENSP00000392245.2:p.Ala187=
ENST00000613192.2:c.169_176delinsATGTCTAC ENSP00000483275.2:p.Met57=
ENST00000613374.5:c.504_511delinsATGTCTAC ENSP00000484464.1:p.Ala168=
ENST00000613706.5:c.1506_1513delinsATGTCTAC ENSP00000484976.2:p.Ala502=
ENST00000617164.5:c.1857_1864delinsATGTCTAC ENSP00000480470.1:p.Ala619=
ENST00000619009.5:c.375_382delinsATGTCTAC ENSP00000482293.1:p.Ala125=
ENST00000650978.1:c.3289_3296delinsATGTCTAC
ENST00000260947.8:c.1914_1921delinsATGTCTAC ENSP00000260947.4:p.Ala638=
ENST00000421162.1:c.561_568delinsATGTCTAC ENSP00000392245.1:p.Ala187=
ENST00000432456.5:c.11_18delinsATGTCTAC
ENST00000455743.5:c.*1534_*1541delinsATGTCTAC ENSP00000412186.1:n.*1534_*1541delinsATGTCTAC
ENST00000471590.5:n.249_256delinsATGTCTAC
ENST00000613192.1:c.84_91delinsATGTCTAC ENSP00000483275.1:p.Ala28=
ENST00000613374.4:c.504_511delinsATGTCTAC ENSP00000484464.1:p.Ala168=
ENST00000613706.4:c.561_568delinsATGTCTAC ENSP00000484976.1:p.Ala187=
ENST00000617164.4:c.1857_1864delinsATGTCTAC ENSP00000480470.1:p.Ala619=
ENST00000619009.4:c.375_382delinsATGTCTAC ENSP00000482293.1:p.Ala125=
ENST00000620057.4:c.*580_*587delinsATGTCTAC ENSP00000481988.1:n.*580_*587delinsATGTCTAC
NM_000465.3:c.1914_1921delinsATGTCTAC NP_000456.2:p.Ala638=
NM_001282543.1:c.1857_1864delinsATGTCTAC NP_001269472.1:p.Ala619=
NM_001282545.1:c.561_568delinsATGTCTAC NP_001269474.1:p.Ala187=
NM_001282548.1:c.504_511delinsATGTCTAC NP_001269477.1:p.Ala168=
NM_001282549.1:c.375_382delinsATGTCTAC NP_001269478.1:p.Ala125=
NR_104212.1:n.1907_1914delinsATGTCTAC
NR_104215.1:n.1850_1857delinsATGTCTAC
NR_104216.1:n.1106_1113delinsATGTCTAC
XM_011511567.1:c.1860_1867delinsATGTCTAC XP_011509869.1:p.Ala620=
XM_017004613.1:c.2013_2020delinsATGTCTAC XP_016860102.1:p.Ala671=
XR_002959322.1:n.2104_2111delinsATGTCTAC
NM_000465.4:c.1914_1921delinsATGTCTAC MANE Select NP_000456.2:p.Ala638=
NM_001282543.2:c.1857_1864delinsATGTCTAC NP_001269472.1:p.Ala619=
NM_001282545.2:c.561_568delinsATGTCTAC NP_001269474.1:p.Ala187=
NM_001282548.2:c.504_511delinsATGTCTAC NP_001269477.1:p.Ala168=
NM_001282549.2:c.375_382delinsATGTCTAC NP_001269478.1:p.Ala125=
NR_104212.2:n.1879_1886delinsATGTCTAC
NR_104215.2:n.1822_1829delinsATGTCTAC
NR_104216.2:n.1078_1085delinsATGTCTAC