Canonical Allele Identifier: CA1327045488
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728747C= , CM000664.2:g.214728747C= GRCh38
NC_000002.11:g.215593471C= , CM000664.1:g.215593471C= GRCh37
NC_000002.10:g.215301716C= NCBI36
NG_012047.2:g.85958G=
NG_012047.3:g.85965G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2263G= MANE Select ENSP00000260947.4:p.Val755=
ENST00000421162.2:c.910G= ENSP00000392245.2:p.Val304=
ENST00000613192.2:c.*326G= ENSP00000483275.2:n.*326G=
ENST00000613374.5:c.853G= ENSP00000484464.1:p.Val285=
ENST00000613706.5:c.1855G= ENSP00000484976.2:p.Val619=
ENST00000617164.5:c.2206G= ENSP00000480470.1:p.Val736=
ENST00000619009.5:c.724G= ENSP00000482293.1:p.Val242=
ENST00000650978.1:c.3638G=
ENST00000260947.8:c.2263G= ENSP00000260947.4:p.Val755=
ENST00000432456.5:c.406G=
ENST00000455743.5:c.*1883G= ENSP00000412186.1:n.*1883G=
ENST00000471590.5:n.598G=
ENST00000613192.1:c.433G= ENSP00000483275.1:p.Val145=
ENST00000613374.4:c.853G= ENSP00000484464.1:p.Val285=
ENST00000613706.4:c.910G= ENSP00000484976.1:p.Val304=
ENST00000617164.4:c.2206G= ENSP00000480470.1:p.Val736=
ENST00000619009.4:c.724G= ENSP00000482293.1:p.Val242=
ENST00000620057.4:c.*929G= ENSP00000481988.1:n.*929G=
NM_000465.3:c.2263G= NP_000456.2:p.Val755=
NM_001282543.1:c.2206G= NP_001269472.1:p.Val736=
NM_001282545.1:c.910G= NP_001269474.1:p.Val304=
NM_001282548.1:c.853G= NP_001269477.1:p.Val285=
NM_001282549.1:c.724G= NP_001269478.1:p.Val242=
NR_104212.1:n.2256G=
NR_104215.1:n.2199G=
NR_104216.1:n.1455G=
XM_011511567.1:c.2209G= XP_011509869.1:p.Val737=
XM_017004613.1:c.2362G= XP_016860102.1:p.Val788=
XR_002959322.1:n.2629G=
NM_000465.4:c.2263G= MANE Select NP_000456.2:p.Val755=
NM_001282543.2:c.2206G= NP_001269472.1:p.Val736=
NM_001282545.2:c.910G= NP_001269474.1:p.Val304=
NM_001282548.2:c.853G= NP_001269477.1:p.Val285=
NM_001282549.2:c.724G= NP_001269478.1:p.Val242=
NR_104212.2:n.2228G=
NR_104215.2:n.2171G=
NR_104216.2:n.1427G=