Canonical Allele Identifier: CA2740096428
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2962434
ClinVar RCV Id: RCV003825064

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730518dup , CM000664.2:g.214730518dup GRCh38
NC_000002.11:g.215595242dup , CM000664.1:g.215595242dup GRCh37
NC_000002.10:g.215303487dup NCBI36
NG_012047.2:g.84191dup
NG_012047.3:g.84198dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1904-6dup MANE Select ENSP00000260947.4:n.1904-6dup
ENST00000421162.2:c.551-6dup ENSP00000392245.2:n.551-6dup
ENST00000613192.2:c.159-6dup ENSP00000483275.2:n.159-6dup
ENST00000613374.5:c.494-6dup ENSP00000484464.1:n.494-6dup
ENST00000613706.5:c.1496-6dup ENSP00000484976.2:n.1496-6dup
ENST00000617164.5:c.1847-6dup ENSP00000480470.1:n.1847-6dup
ENST00000619009.5:c.365-6dup ENSP00000482293.1:n.365-6dup
ENST00000650978.1:c.3279-6dup
ENST00000260947.8:c.1904-6dup ENSP00000260947.4:n.1904-6dup
ENST00000421162.1:c.551-6dup ENSP00000392245.1:n.551-6dup
ENST00000455743.5:c.*1524-6dup ENSP00000412186.1:n.*1524-6dup
ENST00000471590.5:n.239-6dup
ENST00000613192.1:c.74-6dup ENSP00000483275.1:n.74-6dup
ENST00000613374.4:c.494-6dup ENSP00000484464.1:n.494-6dup
ENST00000613706.4:c.551-6dup ENSP00000484976.1:n.551-6dup
ENST00000617164.4:c.1847-6dup ENSP00000480470.1:n.1847-6dup
ENST00000619009.4:c.365-6dup ENSP00000482293.1:n.365-6dup
ENST00000620057.4:c.*570-6dup ENSP00000481988.1:n.*570-6dup
NM_000465.3:c.1904-6dup NP_000456.2:n.1904-6dup
NM_001282543.1:c.1847-6dup NP_001269472.1:n.1847-6dup
NM_001282545.1:c.551-6dup NP_001269474.1:n.551-6dup
NM_001282548.1:c.494-6dup NP_001269477.1:n.494-6dup
NM_001282549.1:c.365-6dup NP_001269478.1:n.365-6dup
NR_104212.1:n.1897-6dup
NR_104215.1:n.1840-6dup
NR_104216.1:n.1096-6dup
XM_011511567.1:c.1850-6dup XP_011509869.1:n.1850-6dup
XM_017004613.1:c.2003-6dup XP_016860102.1:n.2003-6dup
XR_002959322.1:n.2094-6dup
NM_000465.4:c.1904-6dup MANE Select NP_000456.2:n.1904-6dup
NM_001282543.2:c.1847-6dup NP_001269472.1:n.1847-6dup
NM_001282545.2:c.551-6dup NP_001269474.1:n.551-6dup
NM_001282548.2:c.494-6dup NP_001269477.1:n.494-6dup
NM_001282549.2:c.365-6dup NP_001269478.1:n.365-6dup
NR_104212.2:n.1869-6dup
NR_104215.2:n.1812-6dup
NR_104216.2:n.1068-6dup