Canonical Allele Identifier: CA1327071188
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780967C= , CM000664.2:g.214780967C= GRCh38
NC_000002.11:g.215645691C= , CM000664.1:g.215645691C= GRCh37
NC_000002.10:g.215353936C= NCBI36
NG_012047.2:g.33738G=
NG_012047.3:g.33745G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.907G= MANE Select ENSP00000260947.4:p.Val303=
ENST00000421162.2:c.215+16094G= ENSP00000392245.2:n.215+16094G=
ENST00000613192.2:c.158+28445G= ENSP00000483275.2:n.158+28445G=
ENST00000613374.5:c.159-28412G= ENSP00000484464.1:n.159-28412G=
ENST00000613706.5:c.906+1G= ENSP00000484976.2:n.906+1G=
ENST00000617164.5:c.850G= ENSP00000480470.1:p.Val284=
ENST00000619009.5:c.364+11330G= ENSP00000482293.1:n.364+11330G=
ENST00000650978.1:c.749G=
ENST00000260947.8:c.907G= ENSP00000260947.4:p.Val303=
ENST00000421162.1:c.215+16094G= ENSP00000392245.1:n.215+16094G=
ENST00000455743.5:c.*527G= ENSP00000412186.1:n.*527G=
ENST00000471787.1:n.802G=
ENST00000613192.1:c.73+28445G= ENSP00000483275.1:n.73+28445G=
ENST00000613374.4:c.159-28412G= ENSP00000484464.1:n.159-28412G=
ENST00000613706.4:c.215+16094G= ENSP00000484976.1:n.215+16094G=
ENST00000617164.4:c.850G= ENSP00000480470.1:p.Val284=
ENST00000619009.4:c.364+11330G= ENSP00000482293.1:n.364+11330G=
ENST00000620057.4:c.364+11330G= ENSP00000481988.1:n.364+11330G=
NM_000465.3:c.907G= NP_000456.2:p.Val303=
NM_001282543.1:c.850G= NP_001269472.1:p.Val284=
NM_001282545.1:c.215+16094G= NP_001269474.1:n.215+16094G=
NM_001282548.1:c.159-28412G= NP_001269477.1:n.159-28412G=
NM_001282549.1:c.364+11330G= NP_001269478.1:n.364+11330G=
NR_104212.1:n.900G=
NR_104215.1:n.843G=
NR_104216.1:n.506+11330G=
XM_011511567.1:c.853G= XP_011509869.1:p.Val285=
XM_011511568.1:c.907G= XP_011509870.1:p.Val303=
XM_017004613.1:c.1006G= XP_016860102.1:p.Val336=
XM_017004614.1:c.1006G= XP_016860103.1:p.Val336=
XR_002959322.1:n.1097G=
NM_000465.4:c.907G= MANE Select NP_000456.2:p.Val303=
NM_001282543.2:c.850G= NP_001269472.1:p.Val284=
NM_001282545.2:c.215+16094G= NP_001269474.1:n.215+16094G=
NM_001282548.2:c.159-28412G= NP_001269477.1:n.159-28412G=
NM_001282549.2:c.364+11330G= NP_001269478.1:n.364+11330G=
NR_104212.2:n.872G=
NR_104215.2:n.815G=
NR_104216.2:n.478+11330G=