Canonical Allele Identifier: CA1327071375
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781241T= , CM000664.2:g.214781241T= GRCh38
NC_000002.11:g.215645965T= , CM000664.1:g.215645965T= GRCh37
NC_000002.10:g.215354210T= NCBI36
NG_012047.2:g.33464A=
NG_012047.3:g.33471A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.633A= MANE Select ENSP00000260947.4:p.Leu211=
ENST00000421162.2:c.215+15820A= ENSP00000392245.2:n.215+15820A=
ENST00000613192.2:c.158+28171A= ENSP00000483275.2:n.158+28171A=
ENST00000613374.5:c.158+28171A= ENSP00000484464.1:n.158+28171A=
ENST00000613706.5:c.633A= ENSP00000484976.2:p.Leu211=
ENST00000617164.5:c.576A= ENSP00000480470.1:p.Leu192=
ENST00000619009.5:c.364+11056A= ENSP00000482293.1:n.364+11056A=
ENST00000650978.1:c.475A=
ENST00000260947.8:c.633A= ENSP00000260947.4:p.Leu211=
ENST00000421162.1:c.215+15820A= ENSP00000392245.1:n.215+15820A=
ENST00000455743.5:c.*253A= ENSP00000412186.1:n.*253A=
ENST00000471787.1:n.528A=
ENST00000613192.1:c.73+28171A= ENSP00000483275.1:n.73+28171A=
ENST00000613374.4:c.158+28171A= ENSP00000484464.1:n.158+28171A=
ENST00000613706.4:c.215+15820A= ENSP00000484976.1:n.215+15820A=
ENST00000617164.4:c.576A= ENSP00000480470.1:p.Leu192=
ENST00000619009.4:c.364+11056A= ENSP00000482293.1:n.364+11056A=
ENST00000620057.4:c.364+11056A= ENSP00000481988.1:n.364+11056A=
NM_000465.3:c.633A= NP_000456.2:p.Leu211=
NM_001282543.1:c.576A= NP_001269472.1:p.Leu192=
NM_001282545.1:c.215+15820A= NP_001269474.1:n.215+15820A=
NM_001282548.1:c.158+28171A= NP_001269477.1:n.158+28171A=
NM_001282549.1:c.364+11056A= NP_001269478.1:n.364+11056A=
NR_104212.1:n.626A=
NR_104215.1:n.569A=
NR_104216.1:n.506+11056A=
XM_011511567.1:c.579A= XP_011509869.1:p.Leu193=
XM_011511568.1:c.633A= XP_011509870.1:p.Leu211=
XM_017004613.1:c.732A= XP_016860102.1:p.Leu244=
XM_017004614.1:c.732A= XP_016860103.1:p.Leu244=
XR_002959322.1:n.823A=
NM_000465.4:c.633A= MANE Select NP_000456.2:p.Leu211=
NM_001282543.2:c.576A= NP_001269472.1:p.Leu192=
NM_001282545.2:c.215+15820A= NP_001269474.1:n.215+15820A=
NM_001282548.2:c.158+28171A= NP_001269477.1:n.158+28171A=
NM_001282549.2:c.364+11056A= NP_001269478.1:n.364+11056A=
NR_104212.2:n.598A=
NR_104215.2:n.541A=
NR_104216.2:n.478+11056A=