Canonical Allele Identifier: CA1327076689
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792369_214792378delinsTTATCTTCAA , CM000664.2:g.214792369_214792378delinsTTATCTTCAA GRCh38
NC_000002.11:g.215657093_215657102delinsTTATCTTCAA , CM000664.1:g.215657093_215657102delinsTTATCTTCAA GRCh37
NC_000002.10:g.215365338_215365347delinsTTATCTTCAA NCBI36
NG_012047.2:g.22327_22336delinsTTGAAGATAA
NG_012047.3:g.22334_22343delinsTTGAAGATAA

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.283_292delinsTTGAAGATAA MANE Select ENSP00000260947.4:p.Leu95=
ENST00000421162.2:c.215+4683_215+4692delinsTTGAAGATAA ENSP00000392245.2:n.215+4683_215+4692deli...
ENST00000613192.2:c.158+17034_158+17043delinsTTGAAGATAA ENSP00000483275.2:n.158+17034_158+17043de...
ENST00000613374.5:c.158+17034_158+17043delinsTTGAAGATAA ENSP00000484464.1:n.158+17034_158+17043de...
ENST00000613706.5:c.283_292delinsTTGAAGATAA ENSP00000484976.2:p.Leu95=
ENST00000617164.5:c.226_235delinsTTGAAGATAA ENSP00000480470.1:p.Leu76=
ENST00000619009.5:c.283_292delinsTTGAAGATAA ENSP00000482293.1:p.Leu95=
ENST00000650978.1:c.125_134delinsTTGAAGATAA
ENST00000260947.8:c.283_292delinsTTGAAGATAA ENSP00000260947.4:p.Leu95=
ENST00000421162.1:c.215+4683_215+4692delinsTTGAAGATAA ENSP00000392245.1:n.215+4683_215+4692deli...
ENST00000455743.5:c.215+4683_215+4692delinsTTGAAGATAA ENSP00000412186.1:n.215+4683_215+4692deli...
ENST00000471787.1:n.260-10869_260-10860delinsTTGAAGATAA
ENST00000613192.1:c.73+17034_73+17043delinsTTGAAGATAA ENSP00000483275.1:n.73+17034_73+17043deli...
ENST00000613374.4:c.158+17034_158+17043delinsTTGAAGATAA ENSP00000484464.1:n.158+17034_158+17043de...
ENST00000613706.4:c.215+4683_215+4692delinsTTGAAGATAA ENSP00000484976.1:n.215+4683_215+4692deli...
ENST00000617164.4:c.226_235delinsTTGAAGATAA ENSP00000480470.1:p.Leu76=
ENST00000619009.4:c.283_292delinsTTGAAGATAA ENSP00000482293.1:p.Leu95=
ENST00000620057.4:c.283_292delinsTTGAAGATAA ENSP00000481988.1:p.Leu95=
NM_000465.3:c.283_292delinsTTGAAGATAA NP_000456.2:p.Leu95=
NM_001282543.1:c.226_235delinsTTGAAGATAA NP_001269472.1:p.Leu76=
NM_001282545.1:c.215+4683_215+4692delinsTTGAAGATAA NP_001269474.1:n.215+4683_215+4692delinsT...
NM_001282548.1:c.158+17034_158+17043delinsTTGAAGATAA NP_001269477.1:n.158+17034_158+17043delin...
NM_001282549.1:c.283_292delinsTTGAAGATAA NP_001269478.1:p.Leu95=
NR_104212.1:n.357+4683_357+4692delinsTTGAAGATAA
NR_104215.1:n.301-10869_301-10860delinsTTGAAGATAA
NR_104216.1:n.425_434delinsTTGAAGATAA
XM_011511567.1:c.229_238delinsTTGAAGATAA XP_011509869.1:p.Leu77=
XM_011511568.1:c.283_292delinsTTGAAGATAA XP_011509870.1:p.Leu95=
XM_017004613.1:c.382_391delinsTTGAAGATAA XP_016860102.1:p.Leu128=
XM_017004614.1:c.382_391delinsTTGAAGATAA XP_016860103.1:p.Leu128=
XR_002959322.1:n.473_482delinsTTGAAGATAA
NM_000465.4:c.283_292delinsTTGAAGATAA MANE Select NP_000456.2:p.Leu95=
NM_001282543.2:c.226_235delinsTTGAAGATAA NP_001269472.1:p.Leu76=
NM_001282545.2:c.215+4683_215+4692delinsTTGAAGATAA NP_001269474.1:n.215+4683_215+4692delinsT...
NM_001282548.2:c.158+17034_158+17043delinsTTGAAGATAA NP_001269477.1:n.158+17034_158+17043delin...
NM_001282549.2:c.283_292delinsTTGAAGATAA NP_001269478.1:p.Leu95=
NR_104212.2:n.329+4683_329+4692delinsTTGAAGATAA
NR_104215.2:n.273-10869_273-10860delinsTTGAAGATAA
NR_104216.2:n.397_406delinsTTGAAGATAA