Canonical Allele Identifier: CA1327045485
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728743C= , CM000664.2:g.214728743C= GRCh38
NC_000002.11:g.215593467C= , CM000664.1:g.215593467C= GRCh37
NC_000002.10:g.215301712C= NCBI36
NG_012047.2:g.85962G=
NG_012047.3:g.85969G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2267G= MANE Select ENSP00000260947.4:p.Trp756=
ENST00000421162.2:c.914G= ENSP00000392245.2:p.Trp305=
ENST00000613192.2:c.*330G= ENSP00000483275.2:n.*330G=
ENST00000613374.5:c.857G= ENSP00000484464.1:p.Trp286=
ENST00000613706.5:c.1859G= ENSP00000484976.2:p.Trp620=
ENST00000617164.5:c.2210G= ENSP00000480470.1:p.Trp737=
ENST00000619009.5:c.728G= ENSP00000482293.1:p.Trp243=
ENST00000650978.1:c.3642G=
ENST00000260947.8:c.2267G= ENSP00000260947.4:p.Trp756=
ENST00000432456.5:c.410G=
ENST00000455743.5:c.*1887G= ENSP00000412186.1:n.*1887G=
ENST00000471590.5:n.602G=
ENST00000613192.1:c.437G= ENSP00000483275.1:p.Trp146=
ENST00000613374.4:c.857G= ENSP00000484464.1:p.Trp286=
ENST00000613706.4:c.914G= ENSP00000484976.1:p.Trp305=
ENST00000617164.4:c.2210G= ENSP00000480470.1:p.Trp737=
ENST00000619009.4:c.728G= ENSP00000482293.1:p.Trp243=
ENST00000620057.4:c.*933G= ENSP00000481988.1:n.*933G=
NM_000465.3:c.2267G= NP_000456.2:p.Trp756=
NM_001282543.1:c.2210G= NP_001269472.1:p.Trp737=
NM_001282545.1:c.914G= NP_001269474.1:p.Trp305=
NM_001282548.1:c.857G= NP_001269477.1:p.Trp286=
NM_001282549.1:c.728G= NP_001269478.1:p.Trp243=
NR_104212.1:n.2260G=
NR_104215.1:n.2203G=
NR_104216.1:n.1459G=
XM_011511567.1:c.2213G= XP_011509869.1:p.Trp738=
XM_017004613.1:c.2366G= XP_016860102.1:p.Trp789=
XR_002959322.1:n.2633G=
NM_000465.4:c.2267G= MANE Select NP_000456.2:p.Trp756=
NM_001282543.2:c.2210G= NP_001269472.1:p.Trp737=
NM_001282545.2:c.914G= NP_001269474.1:p.Trp305=
NM_001282548.2:c.857G= NP_001269477.1:p.Trp286=
NM_001282549.2:c.728G= NP_001269478.1:p.Trp243=
NR_104212.2:n.2232G=
NR_104215.2:n.2175G=
NR_104216.2:n.1431G=