Canonical Allele Identifier: CA1327071246
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781045C= , CM000664.2:g.214781045C= GRCh38
NC_000002.11:g.215645769C= , CM000664.1:g.215645769C= GRCh37
NC_000002.10:g.215354014C= NCBI36
NG_012047.2:g.33660G=
NG_012047.3:g.33667G=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.829G= MANE Select ENSP00000260947.4:p.Glu277=
ENST00000421162.2:c.215+16016G= ENSP00000392245.2:n.215+16016G=
ENST00000613192.2:c.158+28367G= ENSP00000483275.2:n.158+28367G=
ENST00000613374.5:c.158+28367G= ENSP00000484464.1:n.158+28367G=
ENST00000613706.5:c.829G= ENSP00000484976.2:p.Glu277=
ENST00000617164.5:c.772G= ENSP00000480470.1:p.Glu258=
ENST00000619009.5:c.364+11252G= ENSP00000482293.1:n.364+11252G=
ENST00000650978.1:c.671G=
ENST00000260947.8:c.829G= ENSP00000260947.4:p.Glu277=
ENST00000421162.1:c.215+16016G= ENSP00000392245.1:n.215+16016G=
ENST00000455743.5:c.*449G= ENSP00000412186.1:n.*449G=
ENST00000471787.1:n.724G=
ENST00000613192.1:c.73+28367G= ENSP00000483275.1:n.73+28367G=
ENST00000613374.4:c.158+28367G= ENSP00000484464.1:n.158+28367G=
ENST00000613706.4:c.215+16016G= ENSP00000484976.1:n.215+16016G=
ENST00000617164.4:c.772G= ENSP00000480470.1:p.Glu258=
ENST00000619009.4:c.364+11252G= ENSP00000482293.1:n.364+11252G=
ENST00000620057.4:c.364+11252G= ENSP00000481988.1:n.364+11252G=
NM_000465.3:c.829G= NP_000456.2:p.Glu277=
NM_001282543.1:c.772G= NP_001269472.1:p.Glu258=
NM_001282545.1:c.215+16016G= NP_001269474.1:n.215+16016G=
NM_001282548.1:c.158+28367G= NP_001269477.1:n.158+28367G=
NM_001282549.1:c.364+11252G= NP_001269478.1:n.364+11252G=
NR_104212.1:n.822G=
NR_104215.1:n.765G=
NR_104216.1:n.506+11252G=
XM_011511567.1:c.775G= XP_011509869.1:p.Glu259=
XM_011511568.1:c.829G= XP_011509870.1:p.Glu277=
XM_017004613.1:c.928G= XP_016860102.1:p.Glu310=
XM_017004614.1:c.928G= XP_016860103.1:p.Glu310=
XR_002959322.1:n.1019G=
NM_000465.4:c.829G= MANE Select NP_000456.2:p.Glu277=
NM_001282543.2:c.772G= NP_001269472.1:p.Glu258=
NM_001282545.2:c.215+16016G= NP_001269474.1:n.215+16016G=
NM_001282548.2:c.158+28367G= NP_001269477.1:n.158+28367G=
NM_001282549.2:c.364+11252G= NP_001269478.1:n.364+11252G=
NR_104212.2:n.794G=
NR_104215.2:n.737G=
NR_104216.2:n.478+11252G=