Canonical Allele Identifier: CA2754205050

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792439_214792440insAAAAAA , CM000664.2:g.214792439_214792440insAAAAAA	GRCh38
NC_000002.11:g.215657163_215657164insAAAAAA , CM000664.1:g.215657163_215657164insAAAAAA	GRCh37
NC_000002.10:g.215365408_215365409insAAAAAA	NCBI36
NG_012047.2:g.22266_22267insTTTTTT
NG_012047.3:g.22273_22274insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.222_223insTTTTTT MANE Select	ENSP00000260947.4:p.Cys74_Val75insPhePhe
ENST00000421162.2:c.215+4622_215+4623insTTTTTT	ENSP00000392245.2:n.215+4622_215+4623insTTTTTT
ENST00000613192.2:c.158+16973_158+16974insTTTTTT	ENSP00000483275.2:n.158+16973_158+16974insTTTTTT
ENST00000613374.5:c.158+16973_158+16974insTTTTTT	ENSP00000484464.1:n.158+16973_158+16974insTTTTTT
ENST00000613706.5:c.222_223insTTTTTT	ENSP00000484976.2:p.Cys74_Val75insPhePhe
ENST00000617164.5:c.165_166insTTTTTT	ENSP00000480470.1:p.Cys55_Val56insPhePhe
ENST00000619009.5:c.222_223insTTTTTT	ENSP00000482293.1:p.Cys74_Val75insPhePhe
ENST00000650978.1:c.64_65insTTTTTT
ENST00000260947.8:c.222_223insTTTTTT	ENSP00000260947.4:p.Cys74_Val75insPhePhe
ENST00000421162.1:c.215+4622_215+4623insTTTTTT	ENSP00000392245.1:n.215+4622_215+4623insTTTTTT
ENST00000455743.5:c.215+4622_215+4623insTTTTTT	ENSP00000412186.1:n.215+4622_215+4623insTTTTTT
ENST00000471787.1:n.260-10930_260-10929insTTTTTT
ENST00000613192.1:c.73+16973_73+16974insTTTTTT	ENSP00000483275.1:n.73+16973_73+16974insTTTTTT
ENST00000613374.4:c.158+16973_158+16974insTTTTTT	ENSP00000484464.1:n.158+16973_158+16974insTTTTTT
ENST00000613706.4:c.215+4622_215+4623insTTTTTT	ENSP00000484976.1:n.215+4622_215+4623insTTTTTT
ENST00000617164.4:c.165_166insTTTTTT	ENSP00000480470.1:p.Cys55_Val56insPhePhe
ENST00000619009.4:c.222_223insTTTTTT	ENSP00000482293.1:p.Cys74_Val75insPhePhe
ENST00000620057.4:c.222_223insTTTTTT	ENSP00000481988.1:p.Cys74_Val75insPhePhe
NM_000465.3:c.222_223insTTTTTT	NP_000456.2:p.Cys74_Val75insPhePhe
NM_001282543.1:c.165_166insTTTTTT	NP_001269472.1:p.Cys55_Val56insPhePhe
NM_001282545.1:c.215+4622_215+4623insTTTTTT	NP_001269474.1:n.215+4622_215+4623insTTTTTT
NM_001282548.1:c.158+16973_158+16974insTTTTTT	NP_001269477.1:n.158+16973_158+16974insTTTTTT
NM_001282549.1:c.222_223insTTTTTT	NP_001269478.1:p.Cys74_Val75insPhePhe
NR_104212.1:n.357+4622_357+4623insTTTTTT
NR_104215.1:n.301-10930_301-10929insTTTTTT
NR_104216.1:n.364_365insTTTTTT
XM_011511567.1:c.168_169insTTTTTT	XP_011509869.1:p.Cys56_Val57insPhePhe
XM_011511568.1:c.222_223insTTTTTT	XP_011509870.1:p.Cys74_Val75insPhePhe
XM_017004613.1:c.321_322insTTTTTT	XP_016860102.1:p.Cys107_Val108insPhePhe
XM_017004614.1:c.321_322insTTTTTT	XP_016860103.1:p.Cys107_Val108insPhePhe
XR_002959322.1:n.412_413insTTTTTT
NM_000465.4:c.222_223insTTTTTT MANE Select	NP_000456.2:p.Cys74_Val75insPhePhe
NM_001282543.2:c.165_166insTTTTTT	NP_001269472.1:p.Cys55_Val56insPhePhe
NM_001282545.2:c.215+4622_215+4623insTTTTTT	NP_001269474.1:n.215+4622_215+4623insTTTTTT
NM_001282548.2:c.158+16973_158+16974insTTTTTT	NP_001269477.1:n.158+16973_158+16974insTTTTTT
NM_001282549.2:c.222_223insTTTTTT	NP_001269478.1:p.Cys74_Val75insPhePhe
NR_104212.2:n.329+4622_329+4623insTTTTTT
NR_104215.2:n.273-10930_273-10929insTTTTTT
NR_104216.2:n.336_337insTTTTTT