Canonical Allele Identifier: CA1327045487
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728746A= , CM000664.2:g.214728746A= GRCh38
NC_000002.11:g.215593470A= , CM000664.1:g.215593470A= GRCh37
NC_000002.10:g.215301715A= NCBI36
NG_012047.2:g.85959T=
NG_012047.3:g.85966T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2264T= MANE Select ENSP00000260947.4:p.Val755=
ENST00000421162.2:c.911T= ENSP00000392245.2:p.Val304=
ENST00000613192.2:c.*327T= ENSP00000483275.2:n.*327T=
ENST00000613374.5:c.854T= ENSP00000484464.1:p.Val285=
ENST00000613706.5:c.1856T= ENSP00000484976.2:p.Val619=
ENST00000617164.5:c.2207T= ENSP00000480470.1:p.Val736=
ENST00000619009.5:c.725T= ENSP00000482293.1:p.Val242=
ENST00000650978.1:c.3639T=
ENST00000260947.8:c.2264T= ENSP00000260947.4:p.Val755=
ENST00000432456.5:c.407T=
ENST00000455743.5:c.*1884T= ENSP00000412186.1:n.*1884T=
ENST00000471590.5:n.599T=
ENST00000613192.1:c.434T= ENSP00000483275.1:p.Val145=
ENST00000613374.4:c.854T= ENSP00000484464.1:p.Val285=
ENST00000613706.4:c.911T= ENSP00000484976.1:p.Val304=
ENST00000617164.4:c.2207T= ENSP00000480470.1:p.Val736=
ENST00000619009.4:c.725T= ENSP00000482293.1:p.Val242=
ENST00000620057.4:c.*930T= ENSP00000481988.1:n.*930T=
NM_000465.3:c.2264T= NP_000456.2:p.Val755=
NM_001282543.1:c.2207T= NP_001269472.1:p.Val736=
NM_001282545.1:c.911T= NP_001269474.1:p.Val304=
NM_001282548.1:c.854T= NP_001269477.1:p.Val285=
NM_001282549.1:c.725T= NP_001269478.1:p.Val242=
NR_104212.1:n.2257T=
NR_104215.1:n.2200T=
NR_104216.1:n.1456T=
XM_011511567.1:c.2210T= XP_011509869.1:p.Val737=
XM_017004613.1:c.2363T= XP_016860102.1:p.Val788=
XR_002959322.1:n.2630T=
NM_000465.4:c.2264T= MANE Select NP_000456.2:p.Val755=
NM_001282543.2:c.2207T= NP_001269472.1:p.Val736=
NM_001282545.2:c.911T= NP_001269474.1:p.Val304=
NM_001282548.2:c.854T= NP_001269477.1:p.Val285=
NM_001282549.2:c.725T= NP_001269478.1:p.Val242=
NR_104212.2:n.2229T=
NR_104215.2:n.2172T=
NR_104216.2:n.1428T=