Canonical Allele Identifier: CA64792505
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 801873

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728551_214728552dup , CM000664.2:g.214728551_214728552dup GRCh38
NC_000002.11:g.215593275_215593276dup , CM000664.1:g.215593275_215593276dup GRCh37
NC_000002.10:g.215301520_215301521dup NCBI36
NG_012047.2:g.86166_86167dup
NG_012047.3:g.86173_86174dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.*137_*138dup MANE Select ENSP00000260947.4:p.=
ENST00000260947.8:c.*137_*138dup ENSP00000260947.4:p.=
ENST00000471590.5:n.806_807dup
ENST00000613374.4:c.*137_*138dup ENSP00000484464.1:p.=
ENST00000613706.4:c.*137_*138dup ENSP00000484976.1:p.=
ENST00000617164.4:c.*137_*138dup ENSP00000480470.1:p.=
ENST00000619009.4:c.*137_*138dup ENSP00000482293.1:p.=
NM_000465.3:c.*137_*138dup NP_000456.2:p.=
NM_001282543.1:c.*137_*138dup NP_001269472.1:p.=
NM_001282545.1:c.*137_*138dup NP_001269474.1:p.=
NM_001282548.1:c.*137_*138dup NP_001269477.1:p.=
NM_001282549.1:c.*137_*138dup NP_001269478.1:p.=
NR_104212.1:n.2464_2465dup
NR_104215.1:n.2407_2408dup
NR_104216.1:n.1663_1664dup
XM_011511567.1:c.*137_*138dup XP_011509869.1:p.=
XM_017004613.1:c.*137_*138dup XP_016860102.1:p.=
NM_000465.4:c.*137_*138dup MANE Select NP_000456.2:p.=
NM_001282543.2:c.*137_*138dup NP_001269472.1:p.=
NM_001282545.2:c.*137_*138dup NP_001269474.1:p.=
NM_001282548.2:c.*137_*138dup NP_001269477.1:p.=
NM_001282549.2:c.*137_*138dup NP_001269478.1:p.=
NR_104212.2:n.2436_2437dup
NR_104215.2:n.2379_2380dup
NR_104216.2:n.1635_1636dup