Canonical Allele Identifier: CA2580616673
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2575392
ClinVar RCV Id: RCV003320967

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730542dup , CM000664.2:g.214730542dup GRCh38
NC_000002.11:g.215595266dup , CM000664.1:g.215595266dup GRCh37
NC_000002.10:g.215303511dup NCBI36
NG_012047.2:g.84163dup
NG_012047.3:g.84170dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1904-34dup MANE Select ENSP00000260947.4:n.1904-34dup
ENST00000421162.2:c.551-34dup ENSP00000392245.2:n.551-34dup
ENST00000613192.2:c.159-34dup ENSP00000483275.2:n.159-34dup
ENST00000613374.5:c.494-34dup ENSP00000484464.1:n.494-34dup
ENST00000613706.5:c.1496-34dup ENSP00000484976.2:n.1496-34dup
ENST00000617164.5:c.1847-34dup ENSP00000480470.1:n.1847-34dup
ENST00000619009.5:c.365-34dup ENSP00000482293.1:n.365-34dup
ENST00000650978.1:c.3279-34dup
ENST00000260947.8:c.1904-34dup ENSP00000260947.4:n.1904-34dup
ENST00000421162.1:c.551-34dup ENSP00000392245.1:n.551-34dup
ENST00000455743.5:c.*1524-34dup ENSP00000412186.1:n.*1524-34dup
ENST00000471590.5:n.239-34dup
ENST00000613192.1:c.74-34dup ENSP00000483275.1:n.74-34dup
ENST00000613374.4:c.494-34dup ENSP00000484464.1:n.494-34dup
ENST00000613706.4:c.551-34dup ENSP00000484976.1:n.551-34dup
ENST00000617164.4:c.1847-34dup ENSP00000480470.1:n.1847-34dup
ENST00000619009.4:c.365-34dup ENSP00000482293.1:n.365-34dup
ENST00000620057.4:c.*570-34dup ENSP00000481988.1:n.*570-34dup
NM_000465.3:c.1904-34dup NP_000456.2:n.1904-34dup
NM_001282543.1:c.1847-34dup NP_001269472.1:n.1847-34dup
NM_001282545.1:c.551-34dup NP_001269474.1:n.551-34dup
NM_001282548.1:c.494-34dup NP_001269477.1:n.494-34dup
NM_001282549.1:c.365-34dup NP_001269478.1:n.365-34dup
NR_104212.1:n.1897-34dup
NR_104215.1:n.1840-34dup
NR_104216.1:n.1096-34dup
XM_011511567.1:c.1850-34dup XP_011509869.1:n.1850-34dup
XM_017004613.1:c.2003-34dup XP_016860102.1:n.2003-34dup
XR_002959322.1:n.2094-34dup
NM_000465.4:c.1904-34dup MANE Select NP_000456.2:n.1904-34dup
NM_001282543.2:c.1847-34dup NP_001269472.1:n.1847-34dup
NM_001282545.2:c.551-34dup NP_001269474.1:n.551-34dup
NM_001282548.2:c.494-34dup NP_001269477.1:n.494-34dup
NM_001282549.2:c.365-34dup NP_001269478.1:n.365-34dup
NR_104212.2:n.1869-34dup
NR_104215.2:n.1812-34dup
NR_104216.2:n.1068-34dup