Canonical Allele Identifier: CA1327045559
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728830T= , CM000664.2:g.214728830T= GRCh38
NC_000002.11:g.215593554T= , CM000664.1:g.215593554T= GRCh37
NC_000002.10:g.215301799T= NCBI36
NG_012047.2:g.85875A=
NG_012047.3:g.85882A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2180A= MANE Select ENSP00000260947.4:p.Asp727=
ENST00000421162.2:c.827A= ENSP00000392245.2:p.Asp276=
ENST00000613192.2:c.*243A= ENSP00000483275.2:n.*243A=
ENST00000613374.5:c.770A= ENSP00000484464.1:p.Asp257=
ENST00000613706.5:c.1772A= ENSP00000484976.2:p.Asp591=
ENST00000617164.5:c.2123A= ENSP00000480470.1:p.Asp708=
ENST00000619009.5:c.641A= ENSP00000482293.1:p.Asp214=
ENST00000650978.1:c.3555A=
ENST00000260947.8:c.2180A= ENSP00000260947.4:p.Asp727=
ENST00000432456.5:c.323A=
ENST00000455743.5:c.*1800A= ENSP00000412186.1:n.*1800A=
ENST00000471590.5:n.515A=
ENST00000613192.1:c.350A= ENSP00000483275.1:p.Asp117=
ENST00000613374.4:c.770A= ENSP00000484464.1:p.Asp257=
ENST00000613706.4:c.827A= ENSP00000484976.1:p.Asp276=
ENST00000617164.4:c.2123A= ENSP00000480470.1:p.Asp708=
ENST00000619009.4:c.641A= ENSP00000482293.1:p.Asp214=
ENST00000620057.4:c.*846A= ENSP00000481988.1:n.*846A=
NM_000465.3:c.2180A= NP_000456.2:p.Asp727=
NM_001282543.1:c.2123A= NP_001269472.1:p.Asp708=
NM_001282545.1:c.827A= NP_001269474.1:p.Asp276=
NM_001282548.1:c.770A= NP_001269477.1:p.Asp257=
NM_001282549.1:c.641A= NP_001269478.1:p.Asp214=
NR_104212.1:n.2173A=
NR_104215.1:n.2116A=
NR_104216.1:n.1372A=
XM_011511567.1:c.2126A= XP_011509869.1:p.Asp709=
XM_017004613.1:c.2279A= XP_016860102.1:p.Asp760=
XR_002959322.1:n.2546A=
NM_000465.4:c.2180A= MANE Select NP_000456.2:p.Asp727=
NM_001282543.2:c.2123A= NP_001269472.1:p.Asp708=
NM_001282545.2:c.827A= NP_001269474.1:p.Asp276=
NM_001282548.2:c.770A= NP_001269477.1:p.Asp257=
NM_001282549.2:c.641A= NP_001269478.1:p.Asp214=
NR_104212.2:n.2145A=
NR_104215.2:n.2088A=
NR_104216.2:n.1344A=