Canonical Allele Identifier: CA1327071377
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781243A= , CM000664.2:g.214781243A= GRCh38
NC_000002.11:g.215645967A= , CM000664.1:g.215645967A= GRCh37
NC_000002.10:g.215354212A= NCBI36
NG_012047.2:g.33462T=
NG_012047.3:g.33469T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.631T= MANE Select ENSP00000260947.4:p.Leu211=
ENST00000421162.2:c.215+15818T= ENSP00000392245.2:n.215+15818T=
ENST00000613192.2:c.158+28169T= ENSP00000483275.2:n.158+28169T=
ENST00000613374.5:c.158+28169T= ENSP00000484464.1:n.158+28169T=
ENST00000613706.5:c.631T= ENSP00000484976.2:p.Leu211=
ENST00000617164.5:c.574T= ENSP00000480470.1:p.Leu192=
ENST00000619009.5:c.364+11054T= ENSP00000482293.1:n.364+11054T=
ENST00000650978.1:c.473T=
ENST00000260947.8:c.631T= ENSP00000260947.4:p.Leu211=
ENST00000421162.1:c.215+15818T= ENSP00000392245.1:n.215+15818T=
ENST00000455743.5:c.*251T= ENSP00000412186.1:n.*251T=
ENST00000471787.1:n.526T=
ENST00000613192.1:c.73+28169T= ENSP00000483275.1:n.73+28169T=
ENST00000613374.4:c.158+28169T= ENSP00000484464.1:n.158+28169T=
ENST00000613706.4:c.215+15818T= ENSP00000484976.1:n.215+15818T=
ENST00000617164.4:c.574T= ENSP00000480470.1:p.Leu192=
ENST00000619009.4:c.364+11054T= ENSP00000482293.1:n.364+11054T=
ENST00000620057.4:c.364+11054T= ENSP00000481988.1:n.364+11054T=
NM_000465.3:c.631T= NP_000456.2:p.Leu211=
NM_001282543.1:c.574T= NP_001269472.1:p.Leu192=
NM_001282545.1:c.215+15818T= NP_001269474.1:n.215+15818T=
NM_001282548.1:c.158+28169T= NP_001269477.1:n.158+28169T=
NM_001282549.1:c.364+11054T= NP_001269478.1:n.364+11054T=
NR_104212.1:n.624T=
NR_104215.1:n.567T=
NR_104216.1:n.506+11054T=
XM_011511567.1:c.577T= XP_011509869.1:p.Leu193=
XM_011511568.1:c.631T= XP_011509870.1:p.Leu211=
XM_017004613.1:c.730T= XP_016860102.1:p.Leu244=
XM_017004614.1:c.730T= XP_016860103.1:p.Leu244=
XR_002959322.1:n.821T=
NM_000465.4:c.631T= MANE Select NP_000456.2:p.Leu211=
NM_001282543.2:c.574T= NP_001269472.1:p.Leu192=
NM_001282545.2:c.215+15818T= NP_001269474.1:n.215+15818T=
NM_001282548.2:c.158+28169T= NP_001269477.1:n.158+28169T=
NM_001282549.2:c.364+11054T= NP_001269478.1:n.364+11054T=
NR_104212.2:n.596T=
NR_104215.2:n.539T=
NR_104216.2:n.478+11054T=