Canonical Allele Identifier: CA1327071251
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781051A= , CM000664.2:g.214781051A= GRCh38
NC_000002.11:g.215645775A= , CM000664.1:g.215645775A= GRCh37
NC_000002.10:g.215354020A= NCBI36
NG_012047.2:g.33654T=
NG_012047.3:g.33661T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.823T= MANE Select ENSP00000260947.4:p.Leu275=
ENST00000421162.2:c.215+16010T= ENSP00000392245.2:n.215+16010T=
ENST00000613192.2:c.158+28361T= ENSP00000483275.2:n.158+28361T=
ENST00000613374.5:c.158+28361T= ENSP00000484464.1:n.158+28361T=
ENST00000613706.5:c.823T= ENSP00000484976.2:p.Leu275=
ENST00000617164.5:c.766T= ENSP00000480470.1:p.Leu256=
ENST00000619009.5:c.364+11246T= ENSP00000482293.1:n.364+11246T=
ENST00000650978.1:c.665T=
ENST00000260947.8:c.823T= ENSP00000260947.4:p.Leu275=
ENST00000421162.1:c.215+16010T= ENSP00000392245.1:n.215+16010T=
ENST00000455743.5:c.*443T= ENSP00000412186.1:n.*443T=
ENST00000471787.1:n.718T=
ENST00000613192.1:c.73+28361T= ENSP00000483275.1:n.73+28361T=
ENST00000613374.4:c.158+28361T= ENSP00000484464.1:n.158+28361T=
ENST00000613706.4:c.215+16010T= ENSP00000484976.1:n.215+16010T=
ENST00000617164.4:c.766T= ENSP00000480470.1:p.Leu256=
ENST00000619009.4:c.364+11246T= ENSP00000482293.1:n.364+11246T=
ENST00000620057.4:c.364+11246T= ENSP00000481988.1:n.364+11246T=
NM_000465.3:c.823T= NP_000456.2:p.Leu275=
NM_001282543.1:c.766T= NP_001269472.1:p.Leu256=
NM_001282545.1:c.215+16010T= NP_001269474.1:n.215+16010T=
NM_001282548.1:c.158+28361T= NP_001269477.1:n.158+28361T=
NM_001282549.1:c.364+11246T= NP_001269478.1:n.364+11246T=
NR_104212.1:n.816T=
NR_104215.1:n.759T=
NR_104216.1:n.506+11246T=
XM_011511567.1:c.769T= XP_011509869.1:p.Leu257=
XM_011511568.1:c.823T= XP_011509870.1:p.Leu275=
XM_017004613.1:c.922T= XP_016860102.1:p.Leu308=
XM_017004614.1:c.922T= XP_016860103.1:p.Leu308=
XR_002959322.1:n.1013T=
NM_000465.4:c.823T= MANE Select NP_000456.2:p.Leu275=
NM_001282543.2:c.766T= NP_001269472.1:p.Leu256=
NM_001282545.2:c.215+16010T= NP_001269474.1:n.215+16010T=
NM_001282548.2:c.158+28361T= NP_001269477.1:n.158+28361T=
NM_001282549.2:c.364+11246T= NP_001269478.1:n.364+11246T=
NR_104212.2:n.788T=
NR_104215.2:n.731T=
NR_104216.2:n.478+11246T=