Canonical Allele Identifier: CA1327071068
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780798A= , CM000664.2:g.214780798A= GRCh38
NC_000002.11:g.215645522A= , CM000664.1:g.215645522A= GRCh37
NC_000002.10:g.215353767A= NCBI36
NG_012047.2:g.33907T=
NG_012047.3:g.33914T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1076T= MANE Select ENSP00000260947.4:p.Leu359=
ENST00000421162.2:c.215+16263T= ENSP00000392245.2:n.215+16263T=
ENST00000613192.2:c.158+28614T= ENSP00000483275.2:n.158+28614T=
ENST00000613374.5:c.159-28243T= ENSP00000484464.1:n.159-28243T=
ENST00000613706.5:c.906+170T= ENSP00000484976.2:n.906+170T=
ENST00000617164.5:c.1019T= ENSP00000480470.1:p.Leu340=
ENST00000619009.5:c.364+11499T= ENSP00000482293.1:n.364+11499T=
ENST00000650978.1:c.918T=
ENST00000260947.8:c.1076T= ENSP00000260947.4:p.Leu359=
ENST00000421162.1:c.215+16263T= ENSP00000392245.1:n.215+16263T=
ENST00000455743.5:c.*696T= ENSP00000412186.1:n.*696T=
ENST00000613192.1:c.73+28614T= ENSP00000483275.1:n.73+28614T=
ENST00000613374.4:c.159-28243T= ENSP00000484464.1:n.159-28243T=
ENST00000613706.4:c.215+16263T= ENSP00000484976.1:n.215+16263T=
ENST00000617164.4:c.1019T= ENSP00000480470.1:p.Leu340=
ENST00000619009.4:c.364+11499T= ENSP00000482293.1:n.364+11499T=
ENST00000620057.4:c.365-11486T= ENSP00000481988.1:n.365-11486T=
NM_000465.3:c.1076T= NP_000456.2:p.Leu359=
NM_001282543.1:c.1019T= NP_001269472.1:p.Leu340=
NM_001282545.1:c.215+16263T= NP_001269474.1:n.215+16263T=
NM_001282548.1:c.159-28243T= NP_001269477.1:n.159-28243T=
NM_001282549.1:c.364+11499T= NP_001269478.1:n.364+11499T=
NR_104212.1:n.1069T=
NR_104215.1:n.1012T=
NR_104216.1:n.507-11486T=
XM_011511567.1:c.1022T= XP_011509869.1:p.Leu341=
XM_011511568.1:c.1076T= XP_011509870.1:p.Leu359=
XM_017004613.1:c.1175T= XP_016860102.1:p.Leu392=
XM_017004614.1:c.1175T= XP_016860103.1:p.Leu392=
XR_002959322.1:n.1266T=
NM_000465.4:c.1076T= MANE Select NP_000456.2:p.Leu359=
NM_001282543.2:c.1019T= NP_001269472.1:p.Leu340=
NM_001282545.2:c.215+16263T= NP_001269474.1:n.215+16263T=
NM_001282548.2:c.159-28243T= NP_001269477.1:n.159-28243T=
NM_001282549.2:c.364+11499T= NP_001269478.1:n.364+11499T=
NR_104212.2:n.1041T=
NR_104215.2:n.984T=
NR_104216.2:n.479-11486T=