Canonical Allele Identifier: CA1327053339
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745104A= , CM000664.2:g.214745104A= GRCh38
NC_000002.11:g.215609828A= , CM000664.1:g.215609828A= GRCh37
NC_000002.10:g.215318073A= NCBI36
NG_012047.2:g.69601T=
NG_012047.3:g.69608T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1866T= MANE Select ENSP00000260947.4:p.Leu622=
ENST00000421162.2:c.513T= ENSP00000392245.2:p.Leu171=
ENST00000613192.2:c.159-14596T= ENSP00000483275.2:n.159-14596T=
ENST00000613374.5:c.456T= ENSP00000484464.1:p.Leu152=
ENST00000613706.5:c.1458T= ENSP00000484976.2:p.Leu486=
ENST00000617164.5:c.1809T= ENSP00000480470.1:p.Leu603=
ENST00000619009.5:c.365-14596T= ENSP00000482293.1:n.365-14596T=
ENST00000650978.1:c.3241T=
ENST00000260947.8:c.1866T= ENSP00000260947.4:p.Leu622=
ENST00000421162.1:c.513T= ENSP00000392245.1:p.Leu171=
ENST00000455743.5:c.*1486T= ENSP00000412186.1:n.*1486T=
ENST00000613192.1:c.74-14596T= ENSP00000483275.1:n.74-14596T=
ENST00000613374.4:c.456T= ENSP00000484464.1:p.Leu152=
ENST00000613706.4:c.513T= ENSP00000484976.1:p.Leu171=
ENST00000617164.4:c.1809T= ENSP00000480470.1:p.Leu603=
ENST00000619009.4:c.365-14596T= ENSP00000482293.1:n.365-14596T=
ENST00000620057.4:c.*532T= ENSP00000481988.1:n.*532T=
NM_000465.3:c.1866T= NP_000456.2:p.Leu622=
NM_001282543.1:c.1809T= NP_001269472.1:p.Leu603=
NM_001282545.1:c.513T= NP_001269474.1:p.Leu171=
NM_001282548.1:c.456T= NP_001269477.1:p.Leu152=
NM_001282549.1:c.365-14596T= NP_001269478.1:n.365-14596T=
NR_104212.1:n.1859T=
NR_104215.1:n.1802T=
NR_104216.1:n.1058T=
XM_011511567.1:c.1812T= XP_011509869.1:p.Leu604=
XM_011511568.1:c.1866T= XP_011509870.1:p.Leu622=
XM_017004613.1:c.1965T= XP_016860102.1:p.Leu655=
XM_017004614.1:c.1965T= XP_016860103.1:p.Leu655=
XR_002959322.1:n.2056T=
NM_000465.4:c.1866T= MANE Select NP_000456.2:p.Leu622=
NM_001282543.2:c.1809T= NP_001269472.1:p.Leu603=
NM_001282545.2:c.513T= NP_001269474.1:p.Leu171=
NM_001282548.2:c.456T= NP_001269477.1:p.Leu152=
NM_001282549.2:c.365-14596T= NP_001269478.1:n.365-14596T=
NR_104212.2:n.1831T=
NR_104215.2:n.1774T=
NR_104216.2:n.1030T=