Canonical Allele Identifier: CA1327071161
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780928A= , CM000664.2:g.214780928A= GRCh38
NC_000002.11:g.215645652A= , CM000664.1:g.215645652A= GRCh37
NC_000002.10:g.215353897A= NCBI36
NG_012047.2:g.33777T=
NG_012047.3:g.33784T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.946T= MANE Select ENSP00000260947.4:p.Leu316=
ENST00000421162.2:c.215+16133T= ENSP00000392245.2:n.215+16133T=
ENST00000613192.2:c.158+28484T= ENSP00000483275.2:n.158+28484T=
ENST00000613374.5:c.159-28373T= ENSP00000484464.1:n.159-28373T=
ENST00000613706.5:c.906+40T= ENSP00000484976.2:n.906+40T=
ENST00000617164.5:c.889T= ENSP00000480470.1:p.Leu297=
ENST00000619009.5:c.364+11369T= ENSP00000482293.1:n.364+11369T=
ENST00000650978.1:c.788T=
ENST00000260947.8:c.946T= ENSP00000260947.4:p.Leu316=
ENST00000421162.1:c.215+16133T= ENSP00000392245.1:n.215+16133T=
ENST00000455743.5:c.*566T= ENSP00000412186.1:n.*566T=
ENST00000471787.1:n.841T=
ENST00000613192.1:c.73+28484T= ENSP00000483275.1:n.73+28484T=
ENST00000613374.4:c.159-28373T= ENSP00000484464.1:n.159-28373T=
ENST00000613706.4:c.215+16133T= ENSP00000484976.1:n.215+16133T=
ENST00000617164.4:c.889T= ENSP00000480470.1:p.Leu297=
ENST00000619009.4:c.364+11369T= ENSP00000482293.1:n.364+11369T=
ENST00000620057.4:c.364+11369T= ENSP00000481988.1:n.364+11369T=
NM_000465.3:c.946T= NP_000456.2:p.Leu316=
NM_001282543.1:c.889T= NP_001269472.1:p.Leu297=
NM_001282545.1:c.215+16133T= NP_001269474.1:n.215+16133T=
NM_001282548.1:c.159-28373T= NP_001269477.1:n.159-28373T=
NM_001282549.1:c.364+11369T= NP_001269478.1:n.364+11369T=
NR_104212.1:n.939T=
NR_104215.1:n.882T=
NR_104216.1:n.506+11369T=
XM_011511567.1:c.892T= XP_011509869.1:p.Leu298=
XM_011511568.1:c.946T= XP_011509870.1:p.Leu316=
XM_017004613.1:c.1045T= XP_016860102.1:p.Leu349=
XM_017004614.1:c.1045T= XP_016860103.1:p.Leu349=
XR_002959322.1:n.1136T=
NM_000465.4:c.946T= MANE Select NP_000456.2:p.Leu316=
NM_001282543.2:c.889T= NP_001269472.1:p.Leu297=
NM_001282545.2:c.215+16133T= NP_001269474.1:n.215+16133T=
NM_001282548.2:c.159-28373T= NP_001269477.1:n.159-28373T=
NM_001282549.2:c.364+11369T= NP_001269478.1:n.364+11369T=
NR_104212.2:n.911T=
NR_104215.2:n.854T=
NR_104216.2:n.478+11369T=