Canonical Allele Identifier: CA10577870
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 229935
dbSNP Id: rs587781979

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809543_214809557dup , CM000664.2:g.214809543_214809557dup GRCh38
NC_000002.11:g.215674267_215674281dup , CM000664.1:g.215674267_215674281dup GRCh37
NC_000002.10:g.215382512_215382526dup NCBI36
NG_012047.2:g.5161_5175dup
NG_012047.3:g.5168_5182dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.26_40dup MANE Select ENSP00000260947.4:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000421162.2:c.26_40dup ENSP00000392245.2:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000613192.2:c.26_40dup ENSP00000483275.2:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000613374.5:c.26_40dup ENSP00000484464.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000613706.5:c.26_40dup ENSP00000484976.2:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000617164.5:c.26_40dup ENSP00000480470.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000619009.5:c.26_40dup ENSP00000482293.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000260947.8:c.26_40dup ENSP00000260947.4:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000421162.1:c.26_40dup ENSP00000392245.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000455743.5:c.26_40dup ENSP00000412186.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000471787.1:n.127_141dup
ENST00000479904.1:n.117_131dup
ENST00000613192.1:c.-60_-46dup ENSP00000483275.1:n.-60_-46dup
ENST00000613374.4:c.26_40dup ENSP00000484464.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000613706.4:c.26_40dup ENSP00000484976.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000617164.4:c.26_40dup ENSP00000480470.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000619009.4:c.26_40dup ENSP00000482293.1:p.Arg13_Ile14insAsnArgGlnProArg
ENST00000620057.4:c.26_40dup ENSP00000481988.1:p.Arg13_Ile14insAsnArgGlnProArg
NM_000465.3:c.26_40dup NP_000456.2:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282543.1:c.26_40dup NP_001269472.1:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282545.1:c.26_40dup NP_001269474.1:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282548.1:c.26_40dup NP_001269477.1:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282549.1:c.26_40dup NP_001269478.1:p.Arg13_Ile14insAsnArgGlnProArg
NR_104212.1:n.168_182dup
NR_104215.1:n.168_182dup
NR_104216.1:n.168_182dup
XM_011511568.1:c.26_40dup XP_011509870.1:p.Arg13_Ile14insAsnArgGlnProArg
XM_017004613.1:c.26_40dup XP_016860102.1:p.Arg13_Ile14insAsnArgGlnProArg
XM_017004614.1:c.26_40dup XP_016860103.1:p.Arg13_Ile14insAsnArgGlnProArg
XR_002959322.1:n.117_131dup
NM_000465.4:c.26_40dup MANE Select NP_000456.2:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282543.2:c.26_40dup NP_001269472.1:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282545.2:c.26_40dup NP_001269474.1:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282548.2:c.26_40dup NP_001269477.1:p.Arg13_Ile14insAsnArgGlnProArg
NM_001282549.2:c.26_40dup NP_001269478.1:p.Arg13_Ile14insAsnArgGlnProArg
NR_104212.2:n.140_154dup
NR_104215.2:n.140_154dup
NR_104216.2:n.140_154dup