Canonical Allele Identifier: CA1327071132
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780880T= , CM000664.2:g.214780880T= GRCh38
NC_000002.11:g.215645604T= , CM000664.1:g.215645604T= GRCh37
NC_000002.10:g.215353849T= NCBI36
NG_012047.2:g.33825A=
NG_012047.3:g.33832A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.994A= MANE Select ENSP00000260947.4:p.Ile332=
ENST00000421162.2:c.215+16181A= ENSP00000392245.2:n.215+16181A=
ENST00000613192.2:c.158+28532A= ENSP00000483275.2:n.158+28532A=
ENST00000613374.5:c.159-28325A= ENSP00000484464.1:n.159-28325A=
ENST00000613706.5:c.906+88A= ENSP00000484976.2:n.906+88A=
ENST00000617164.5:c.937A= ENSP00000480470.1:p.Ile313=
ENST00000619009.5:c.364+11417A= ENSP00000482293.1:n.364+11417A=
ENST00000650978.1:c.836A=
ENST00000260947.8:c.994A= ENSP00000260947.4:p.Ile332=
ENST00000421162.1:c.215+16181A= ENSP00000392245.1:n.215+16181A=
ENST00000455743.5:c.*614A= ENSP00000412186.1:n.*614A=
ENST00000613192.1:c.73+28532A= ENSP00000483275.1:n.73+28532A=
ENST00000613374.4:c.159-28325A= ENSP00000484464.1:n.159-28325A=
ENST00000613706.4:c.215+16181A= ENSP00000484976.1:n.215+16181A=
ENST00000617164.4:c.937A= ENSP00000480470.1:p.Ile313=
ENST00000619009.4:c.364+11417A= ENSP00000482293.1:n.364+11417A=
ENST00000620057.4:c.364+11417A= ENSP00000481988.1:n.364+11417A=
NM_000465.3:c.994A= NP_000456.2:p.Ile332=
NM_001282543.1:c.937A= NP_001269472.1:p.Ile313=
NM_001282545.1:c.215+16181A= NP_001269474.1:n.215+16181A=
NM_001282548.1:c.159-28325A= NP_001269477.1:n.159-28325A=
NM_001282549.1:c.364+11417A= NP_001269478.1:n.364+11417A=
NR_104212.1:n.987A=
NR_104215.1:n.930A=
NR_104216.1:n.506+11417A=
XM_011511567.1:c.940A= XP_011509869.1:p.Ile314=
XM_011511568.1:c.994A= XP_011509870.1:p.Ile332=
XM_017004613.1:c.1093A= XP_016860102.1:p.Ile365=
XM_017004614.1:c.1093A= XP_016860103.1:p.Ile365=
XR_002959322.1:n.1184A=
NM_000465.4:c.994A= MANE Select NP_000456.2:p.Ile332=
NM_001282543.2:c.937A= NP_001269472.1:p.Ile313=
NM_001282545.2:c.215+16181A= NP_001269474.1:n.215+16181A=
NM_001282548.2:c.159-28325A= NP_001269477.1:n.159-28325A=
NM_001282549.2:c.364+11417A= NP_001269478.1:n.364+11417A=
NR_104212.2:n.959A=
NR_104215.2:n.902A=
NR_104216.2:n.478+11417A=