Canonical Allele Identifier: CA1327045484
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728742C= , CM000664.2:g.214728742C= GRCh38
NC_000002.11:g.215593466C= , CM000664.1:g.215593466C= GRCh37
NC_000002.10:g.215301711C= NCBI36
NG_012047.2:g.85963G=
NG_012047.3:g.85970G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2268G= MANE Select ENSP00000260947.4:p.Trp756=
ENST00000421162.2:c.915G= ENSP00000392245.2:p.Trp305=
ENST00000613192.2:c.*331G= ENSP00000483275.2:n.*331G=
ENST00000613374.5:c.858G= ENSP00000484464.1:p.Trp286=
ENST00000613706.5:c.1860G= ENSP00000484976.2:p.Trp620=
ENST00000617164.5:c.2211G= ENSP00000480470.1:p.Trp737=
ENST00000619009.5:c.729G= ENSP00000482293.1:p.Trp243=
ENST00000650978.1:c.3643G=
ENST00000260947.8:c.2268G= ENSP00000260947.4:p.Trp756=
ENST00000432456.5:c.411G=
ENST00000455743.5:c.*1888G= ENSP00000412186.1:n.*1888G=
ENST00000471590.5:n.603G=
ENST00000613192.1:c.438G= ENSP00000483275.1:p.Trp146=
ENST00000613374.4:c.858G= ENSP00000484464.1:p.Trp286=
ENST00000613706.4:c.915G= ENSP00000484976.1:p.Trp305=
ENST00000617164.4:c.2211G= ENSP00000480470.1:p.Trp737=
ENST00000619009.4:c.729G= ENSP00000482293.1:p.Trp243=
ENST00000620057.4:c.*934G= ENSP00000481988.1:n.*934G=
NM_000465.3:c.2268G= NP_000456.2:p.Trp756=
NM_001282543.1:c.2211G= NP_001269472.1:p.Trp737=
NM_001282545.1:c.915G= NP_001269474.1:p.Trp305=
NM_001282548.1:c.858G= NP_001269477.1:p.Trp286=
NM_001282549.1:c.729G= NP_001269478.1:p.Trp243=
NR_104212.1:n.2261G=
NR_104215.1:n.2204G=
NR_104216.1:n.1460G=
XM_011511567.1:c.2214G= XP_011509869.1:p.Trp738=
XM_017004613.1:c.2367G= XP_016860102.1:p.Trp789=
XR_002959322.1:n.2634G=
NM_000465.4:c.2268G= MANE Select NP_000456.2:p.Trp756=
NM_001282543.2:c.2211G= NP_001269472.1:p.Trp737=
NM_001282545.2:c.915G= NP_001269474.1:p.Trp305=
NM_001282548.2:c.858G= NP_001269477.1:p.Trp286=
NM_001282549.2:c.729G= NP_001269478.1:p.Trp243=
NR_104212.2:n.2233G=
NR_104215.2:n.2176G=
NR_104216.2:n.1432G=