Canonical Allele Identifier: CA1327085057
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1696443924

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809322_214809334dup , CM000664.2:g.214809322_214809334dup GRCh38
NC_000002.11:g.215674046_215674058dup , CM000664.1:g.215674046_215674058dup GRCh37
NC_000002.10:g.215382291_215382303dup NCBI36
NG_012047.2:g.5371_5383dup
NG_012047.3:g.5378_5390dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.158+78_158+90dup MANE Select ENSP00000260947.4:n.158+78_158+90dup
ENST00000421162.2:c.158+78_158+90dup ENSP00000392245.2:n.158+78_158+90dup
ENST00000613192.2:c.158+78_158+90dup ENSP00000483275.2:n.158+78_158+90dup
ENST00000613374.5:c.158+78_158+90dup ENSP00000484464.1:n.158+78_158+90dup
ENST00000613706.5:c.158+78_158+90dup ENSP00000484976.2:n.158+78_158+90dup
ENST00000617164.5:c.158+78_158+90dup ENSP00000480470.1:n.158+78_158+90dup
ENST00000619009.5:c.158+78_158+90dup ENSP00000482293.1:n.158+78_158+90dup
ENST00000260947.8:c.158+78_158+90dup ENSP00000260947.4:n.158+78_158+90dup
ENST00000421162.1:c.158+78_158+90dup ENSP00000392245.1:n.158+78_158+90dup
ENST00000455743.5:c.158+78_158+90dup ENSP00000412186.1:n.158+78_158+90dup
ENST00000471787.1:n.259+78_259+90dup
ENST00000479904.1:n.249+78_249+90dup
ENST00000613192.1:c.73+78_73+90dup ENSP00000483275.1:n.73+78_73+90dup
ENST00000613374.4:c.158+78_158+90dup ENSP00000484464.1:n.158+78_158+90dup
ENST00000613706.4:c.158+78_158+90dup ENSP00000484976.1:n.158+78_158+90dup
ENST00000617164.4:c.158+78_158+90dup ENSP00000480470.1:n.158+78_158+90dup
ENST00000619009.4:c.158+78_158+90dup ENSP00000482293.1:n.158+78_158+90dup
ENST00000620057.4:c.158+78_158+90dup ENSP00000481988.1:n.158+78_158+90dup
NM_000465.3:c.158+78_158+90dup NP_000456.2:n.158+78_158+90dup
NM_001282543.1:c.158+78_158+90dup NP_001269472.1:n.158+78_158+90dup
NM_001282545.1:c.158+78_158+90dup NP_001269474.1:n.158+78_158+90dup
NM_001282548.1:c.158+78_158+90dup NP_001269477.1:n.158+78_158+90dup
NM_001282549.1:c.158+78_158+90dup NP_001269478.1:n.158+78_158+90dup
NR_104212.1:n.300+78_300+90dup
NR_104215.1:n.300+78_300+90dup
NR_104216.1:n.300+78_300+90dup
XM_011511568.1:c.158+78_158+90dup XP_011509870.1:n.158+78_158+90dup
XM_017004613.1:c.158+78_158+90dup XP_016860102.1:n.158+78_158+90dup
XM_017004614.1:c.158+78_158+90dup XP_016860103.1:n.158+78_158+90dup
XR_002959322.1:n.249+78_249+90dup
NM_000465.4:c.158+78_158+90dup MANE Select NP_000456.2:n.158+78_158+90dup
NM_001282543.2:c.158+78_158+90dup NP_001269472.1:n.158+78_158+90dup
NM_001282545.2:c.158+78_158+90dup NP_001269474.1:n.158+78_158+90dup
NM_001282548.2:c.158+78_158+90dup NP_001269477.1:n.158+78_158+90dup
NM_001282549.2:c.158+78_158+90dup NP_001269478.1:n.158+78_158+90dup
NR_104212.2:n.272+78_272+90dup
NR_104215.2:n.272+78_272+90dup
NR_104216.2:n.272+78_272+90dup