Canonical Allele Identifier: CA2577234305
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087937
ClinVar RCV Id: RCV003009815

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745741_214745744del , CM000664.2:g.214745741_214745744del GRCh38
NC_000002.11:g.215610465_215610468del , CM000664.1:g.215610465_215610468del GRCh37
NC_000002.10:g.215318710_215318713del NCBI36
NG_012047.2:g.68962_68965del
NG_012047.3:g.68969_68972del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1789_1792del MANE Select ENSP00000260947.4:p.Tyr597LeufsTer7
ENST00000421162.2:c.436_439del ENSP00000392245.2:p.Tyr146LeufsTer7
ENST00000613192.2:c.159-15235_159-15232del ENSP00000483275.2:n.159-15235_159-15232de...
ENST00000613374.5:c.379_382del ENSP00000484464.1:p.Tyr127LeufsTer7
ENST00000613706.5:c.1381_1384del ENSP00000484976.2:p.Tyr461LeufsTer7
ENST00000617164.5:c.1732_1735del ENSP00000480470.1:p.Tyr578LeufsTer7
ENST00000619009.5:c.365-15235_365-15232del ENSP00000482293.1:n.365-15235_365-15232de...
ENST00000650978.1:c.3164_3167del
ENST00000260947.8:c.1789_1792del ENSP00000260947.4:p.Tyr597LeufsTer7
ENST00000421162.1:c.436_439del ENSP00000392245.1:p.Tyr146LeufsTer7
ENST00000455743.5:c.*1409_*1412del ENSP00000412186.1:n.*1409_*1412del
ENST00000465841.1:n.144_147del
ENST00000613192.1:c.74-15235_74-15232del ENSP00000483275.1:n.74-15235_74-15232del
ENST00000613374.4:c.379_382del ENSP00000484464.1:p.Tyr127LeufsTer7
ENST00000613706.4:c.436_439del ENSP00000484976.1:p.Tyr146LeufsTer7
ENST00000617164.4:c.1732_1735del ENSP00000480470.1:p.Tyr578LeufsTer7
ENST00000619009.4:c.365-15235_365-15232del ENSP00000482293.1:n.365-15235_365-15232de...
ENST00000620057.4:c.*455_*458del ENSP00000481988.1:n.*455_*458del
NM_000465.3:c.1789_1792del NP_000456.2:p.Tyr597LeufsTer7
NM_001282543.1:c.1732_1735del NP_001269472.1:p.Tyr578LeufsTer7
NM_001282545.1:c.436_439del NP_001269474.1:p.Tyr146LeufsTer7
NM_001282548.1:c.379_382del NP_001269477.1:p.Tyr127LeufsTer7
NM_001282549.1:c.365-15235_365-15232del NP_001269478.1:n.365-15235_365-15232del
NR_104212.1:n.1782_1785del
NR_104215.1:n.1725_1728del
NR_104216.1:n.981_984del
XM_011511567.1:c.1735_1738del XP_011509869.1:p.Tyr579LeufsTer7
XM_011511568.1:c.1789_1792del XP_011509870.1:p.Tyr597LeufsTer7
XM_017004613.1:c.1888_1891del XP_016860102.1:p.Tyr630LeufsTer7
XM_017004614.1:c.1888_1891del XP_016860103.1:p.Tyr630LeufsTer7
XR_002959322.1:n.1979_1982del
NM_000465.4:c.1789_1792del MANE Select NP_000456.2:p.Tyr597LeufsTer7
NM_001282543.2:c.1732_1735del NP_001269472.1:p.Tyr578LeufsTer7
NM_001282545.2:c.436_439del NP_001269474.1:p.Tyr146LeufsTer7
NM_001282548.2:c.379_382del NP_001269477.1:p.Tyr127LeufsTer7
NM_001282549.2:c.365-15235_365-15232del NP_001269478.1:n.365-15235_365-15232del
NR_104212.2:n.1754_1757del
NR_104215.2:n.1697_1700del
NR_104216.2:n.953_956del