Canonical Allele Identifier: CA1327071076
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780806A= , CM000664.2:g.214780806A= GRCh38
NC_000002.11:g.215645530A= , CM000664.1:g.215645530A= GRCh37
NC_000002.10:g.215353775A= NCBI36
NG_012047.2:g.33899T=
NG_012047.3:g.33906T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1068T= MANE Select ENSP00000260947.4:p.Asn356=
ENST00000421162.2:c.215+16255T= ENSP00000392245.2:n.215+16255T=
ENST00000613192.2:c.158+28606T= ENSP00000483275.2:n.158+28606T=
ENST00000613374.5:c.159-28251T= ENSP00000484464.1:n.159-28251T=
ENST00000613706.5:c.906+162T= ENSP00000484976.2:n.906+162T=
ENST00000617164.5:c.1011T= ENSP00000480470.1:p.Asn337=
ENST00000619009.5:c.364+11491T= ENSP00000482293.1:n.364+11491T=
ENST00000650978.1:c.910T=
ENST00000260947.8:c.1068T= ENSP00000260947.4:p.Asn356=
ENST00000421162.1:c.215+16255T= ENSP00000392245.1:n.215+16255T=
ENST00000455743.5:c.*688T= ENSP00000412186.1:n.*688T=
ENST00000613192.1:c.73+28606T= ENSP00000483275.1:n.73+28606T=
ENST00000613374.4:c.159-28251T= ENSP00000484464.1:n.159-28251T=
ENST00000613706.4:c.215+16255T= ENSP00000484976.1:n.215+16255T=
ENST00000617164.4:c.1011T= ENSP00000480470.1:p.Asn337=
ENST00000619009.4:c.364+11491T= ENSP00000482293.1:n.364+11491T=
ENST00000620057.4:c.364+11491T= ENSP00000481988.1:n.364+11491T=
NM_000465.3:c.1068T= NP_000456.2:p.Asn356=
NM_001282543.1:c.1011T= NP_001269472.1:p.Asn337=
NM_001282545.1:c.215+16255T= NP_001269474.1:n.215+16255T=
NM_001282548.1:c.159-28251T= NP_001269477.1:n.159-28251T=
NM_001282549.1:c.364+11491T= NP_001269478.1:n.364+11491T=
NR_104212.1:n.1061T=
NR_104215.1:n.1004T=
NR_104216.1:n.506+11491T=
XM_011511567.1:c.1014T= XP_011509869.1:p.Asn338=
XM_011511568.1:c.1068T= XP_011509870.1:p.Asn356=
XM_017004613.1:c.1167T= XP_016860102.1:p.Asn389=
XM_017004614.1:c.1167T= XP_016860103.1:p.Asn389=
XR_002959322.1:n.1258T=
NM_000465.4:c.1068T= MANE Select NP_000456.2:p.Asn356=
NM_001282543.2:c.1011T= NP_001269472.1:p.Asn337=
NM_001282545.2:c.215+16255T= NP_001269474.1:n.215+16255T=
NM_001282548.2:c.159-28251T= NP_001269477.1:n.159-28251T=
NM_001282549.2:c.364+11491T= NP_001269478.1:n.364+11491T=
NR_104212.2:n.1033T=
NR_104215.2:n.976T=
NR_104216.2:n.478+11491T=