Canonical Allele Identifier: CA1327045468
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728724C= , CM000664.2:g.214728724C= GRCh38
NC_000002.11:g.215593448C= , CM000664.1:g.215593448C= GRCh37
NC_000002.10:g.215301693C= NCBI36
NG_012047.2:g.85981G=
NG_012047.3:g.85988G=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.2286G= MANE Select ENSP00000260947.4:p.Trp762=
ENST00000421162.2:c.933G= ENSP00000392245.2:p.Trp311=
ENST00000613192.2:c.*349G= ENSP00000483275.2:n.*349G=
ENST00000613374.5:c.876G= ENSP00000484464.1:p.Trp292=
ENST00000613706.5:c.1878G= ENSP00000484976.2:p.Trp626=
ENST00000617164.5:c.2229G= ENSP00000480470.1:p.Trp743=
ENST00000619009.5:c.747G= ENSP00000482293.1:p.Trp249=
ENST00000650978.1:c.3661G=
ENST00000260947.8:c.2286G= ENSP00000260947.4:p.Trp762=
ENST00000432456.5:c.429G=
ENST00000455743.5:c.*1906G= ENSP00000412186.1:n.*1906G=
ENST00000471590.5:n.621G=
ENST00000613192.1:c.456G= ENSP00000483275.1:p.Trp152=
ENST00000613374.4:c.876G= ENSP00000484464.1:p.Trp292=
ENST00000613706.4:c.933G= ENSP00000484976.1:p.Trp311=
ENST00000617164.4:c.2229G= ENSP00000480470.1:p.Trp743=
ENST00000619009.4:c.747G= ENSP00000482293.1:p.Trp249=
ENST00000620057.4:c.*952G= ENSP00000481988.1:n.*952G=
NM_000465.3:c.2286G= NP_000456.2:p.Trp762=
NM_001282543.1:c.2229G= NP_001269472.1:p.Trp743=
NM_001282545.1:c.933G= NP_001269474.1:p.Trp311=
NM_001282548.1:c.876G= NP_001269477.1:p.Trp292=
NM_001282549.1:c.747G= NP_001269478.1:p.Trp249=
NR_104212.1:n.2279G=
NR_104215.1:n.2222G=
NR_104216.1:n.1478G=
XM_011511567.1:c.2232G= XP_011509869.1:p.Trp744=
XM_017004613.1:c.2385G= XP_016860102.1:p.Trp795=
XR_002959322.1:n.2652G=
NM_000465.4:c.2286G= MANE Select NP_000456.2:p.Trp762=
NM_001282543.2:c.2229G= NP_001269472.1:p.Trp743=
NM_001282545.2:c.933G= NP_001269474.1:p.Trp311=
NM_001282548.2:c.876G= NP_001269477.1:p.Trp292=
NM_001282549.2:c.747G= NP_001269478.1:p.Trp249=
NR_104212.2:n.2251G=
NR_104215.2:n.2194G=
NR_104216.2:n.1450G=