Canonical Allele Identifier: CA1327046414

Gene: BARD1

Linked Data

• dbSNP Id: rs1692306389

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730492_214730498del , CM000664.2:g.214730492_214730498del	GRCh38
NC_000002.11:g.215595216_215595222del , CM000664.1:g.215595216_215595222del	GRCh37
NC_000002.10:g.215303461_215303467del	NCBI36
NG_012047.2:g.84207_84213del
NG_012047.3:g.84214_84220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1914_1920del MANE Select	ENSP00000260947.4:p.Cys639GlufsTer?
ENST00000421162.2:c.561_567del	ENSP00000392245.2:p.Cys188GlufsTer?
ENST00000613192.2:c.169_175del	ENSP00000483275.2:p.Met57ArgfsTer?
ENST00000613374.5:c.504_510del	ENSP00000484464.1:p.Cys169GlufsTer?
ENST00000613706.5:c.1506_1512del	ENSP00000484976.2:p.Cys503GlufsTer?
ENST00000617164.5:c.1857_1863del	ENSP00000480470.1:p.Cys620GlufsTer?
ENST00000619009.5:c.375_381del	ENSP00000482293.1:p.Cys126GlufsTer?
ENST00000650978.1:c.3289_3295del
ENST00000260947.8:c.1914_1920del	ENSP00000260947.4:p.Cys639GlufsTer?
ENST00000421162.1:c.561_567del	ENSP00000392245.1:p.Cys188GlufsTer?
ENST00000432456.5:c.11_17del
ENST00000455743.5:c.*1534_*1540del	ENSP00000412186.1:n.*1534_*1540del
ENST00000471590.5:n.249_255del
ENST00000613192.1:c.84_90del	ENSP00000483275.1:p.Cys29GlufsTer?
ENST00000613374.4:c.504_510del	ENSP00000484464.1:p.Cys169GlufsTer?
ENST00000613706.4:c.561_567del	ENSP00000484976.1:p.Cys188GlufsTer?
ENST00000617164.4:c.1857_1863del	ENSP00000480470.1:p.Cys620GlufsTer?
ENST00000619009.4:c.375_381del	ENSP00000482293.1:p.Cys126GlufsTer?
ENST00000620057.4:c.*580_*586del	ENSP00000481988.1:n.*580_*586del
NM_000465.3:c.1914_1920del	NP_000456.2:p.Cys639GlufsTer?
NM_001282543.1:c.1857_1863del	NP_001269472.1:p.Cys620GlufsTer?
NM_001282545.1:c.561_567del	NP_001269474.1:p.Cys188GlufsTer?
NM_001282548.1:c.504_510del	NP_001269477.1:p.Cys169GlufsTer?
NM_001282549.1:c.375_381del	NP_001269478.1:p.Cys126GlufsTer?
NR_104212.1:n.1907_1913del
NR_104215.1:n.1850_1856del
NR_104216.1:n.1106_1112del
XM_011511567.1:c.1860_1866del	XP_011509869.1:p.Cys621GlufsTer?
XM_017004613.1:c.2013_2019del	XP_016860102.1:p.Cys672GlufsTer?
XR_002959322.1:n.2104_2110del
NM_000465.4:c.1914_1920del MANE Select	NP_000456.2:p.Cys639GlufsTer?
NM_001282543.2:c.1857_1863del	NP_001269472.1:p.Cys620GlufsTer?
NM_001282545.2:c.561_567del	NP_001269474.1:p.Cys188GlufsTer?
NM_001282548.2:c.504_510del	NP_001269477.1:p.Cys169GlufsTer?
NM_001282549.2:c.375_381del	NP_001269478.1:p.Cys126GlufsTer?
NR_104212.2:n.1879_1885del
NR_104215.2:n.1822_1828del
NR_104216.2:n.1078_1084del