Canonical Allele Identifier: CA2701486930

Gene: BARD1

Linked Data

• dbSNP Id: rs2105990791

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730482_214730483insAA , CM000664.2:g.214730482_214730483insAA	GRCh38
NC_000002.11:g.215595206_215595207insAA , CM000664.1:g.215595206_215595207insAA	GRCh37
NC_000002.10:g.215303451_215303452insAA	NCBI36
NG_012047.2:g.84222_84223insTT
NG_012047.3:g.84229_84230insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1929_1930insTT MANE Select	ENSP00000260947.4:p.Val644LeufsTer?
ENST00000421162.2:c.576_577insTT	ENSP00000392245.2:p.Val193LeufsTer?
ENST00000613192.2:c.184_185insTT	ENSP00000483275.2:p.Ser62IlefsTer?
ENST00000613374.5:c.519_520insTT	ENSP00000484464.1:p.Val174LeufsTer?
ENST00000613706.5:c.1521_1522insTT	ENSP00000484976.2:p.Val508LeufsTer?
ENST00000617164.5:c.1872_1873insTT	ENSP00000480470.1:p.Val625LeufsTer?
ENST00000619009.5:c.390_391insTT	ENSP00000482293.1:p.Val131LeufsTer?
ENST00000650978.1:c.3304_3305insTT
ENST00000260947.8:c.1929_1930insTT	ENSP00000260947.4:p.Val644LeufsTer?
ENST00000421162.1:c.576_577insTT	ENSP00000392245.1:p.Val193LeufsTer?
ENST00000432456.5:c.26_27insTT
ENST00000455743.5:c.*1549_*1550insTT	ENSP00000412186.1:n.*1549_*1550insTT
ENST00000471590.5:n.264_265insTT
ENST00000613192.1:c.99_100insTT	ENSP00000483275.1:p.Val34LeufsTer?
ENST00000613374.4:c.519_520insTT	ENSP00000484464.1:p.Val174LeufsTer?
ENST00000613706.4:c.576_577insTT	ENSP00000484976.1:p.Val193LeufsTer?
ENST00000617164.4:c.1872_1873insTT	ENSP00000480470.1:p.Val625LeufsTer?
ENST00000619009.4:c.390_391insTT	ENSP00000482293.1:p.Val131LeufsTer?
ENST00000620057.4:c.*595_*596insTT	ENSP00000481988.1:n.*595_*596insTT
NM_000465.3:c.1929_1930insTT	NP_000456.2:p.Val644LeufsTer?
NM_001282543.1:c.1872_1873insTT	NP_001269472.1:p.Val625LeufsTer?
NM_001282545.1:c.576_577insTT	NP_001269474.1:p.Val193LeufsTer?
NM_001282548.1:c.519_520insTT	NP_001269477.1:p.Val174LeufsTer?
NM_001282549.1:c.390_391insTT	NP_001269478.1:p.Val131LeufsTer?
NR_104212.1:n.1922_1923insTT
NR_104215.1:n.1865_1866insTT
NR_104216.1:n.1121_1122insTT
XM_011511567.1:c.1875_1876insTT	XP_011509869.1:p.Val626LeufsTer?
XM_017004613.1:c.2028_2029insTT	XP_016860102.1:p.Val677LeufsTer?
XR_002959322.1:n.2119_2120insTT
NM_000465.4:c.1929_1930insTT MANE Select	NP_000456.2:p.Val644LeufsTer?
NM_001282543.2:c.1872_1873insTT	NP_001269472.1:p.Val625LeufsTer?
NM_001282545.2:c.576_577insTT	NP_001269474.1:p.Val193LeufsTer?
NM_001282548.2:c.519_520insTT	NP_001269477.1:p.Val174LeufsTer?
NM_001282549.2:c.390_391insTT	NP_001269478.1:p.Val131LeufsTer?
NR_104212.2:n.1894_1895insTT
NR_104215.2:n.1837_1838insTT
NR_104216.2:n.1093_1094insTT