Canonical Allele Identifier: CA2580065602

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2029061
• ClinVar RCV Id: RCV002876454

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745153del , CM000664.2:g.214745153del	GRCh38
NC_000002.11:g.215609877del , CM000664.1:g.215609877del	GRCh37
NC_000002.10:g.215318122del	NCBI36
NG_012047.2:g.69552del
NG_012047.3:g.69559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1817del MANE Select	ENSP00000260947.4:p.His606LeufsTer13
ENST00000421162.2:c.464del	ENSP00000392245.2:p.His155LeufsTer13
ENST00000613192.2:c.159-14645del	ENSP00000483275.2:n.159-14645del
ENST00000613374.5:c.407del	ENSP00000484464.1:p.His136LeufsTer13
ENST00000613706.5:c.1409del	ENSP00000484976.2:p.His470LeufsTer13
ENST00000617164.5:c.1760del	ENSP00000480470.1:p.His587LeufsTer13
ENST00000619009.5:c.365-14645del	ENSP00000482293.1:n.365-14645del
ENST00000650978.1:c.3192del
ENST00000260947.8:c.1817del	ENSP00000260947.4:p.His606LeufsTer13
ENST00000421162.1:c.464del	ENSP00000392245.1:p.His155LeufsTer13
ENST00000455743.5:c.*1437del	ENSP00000412186.1:n.*1437del
ENST00000613192.1:c.74-14645del	ENSP00000483275.1:n.74-14645del
ENST00000613374.4:c.407del	ENSP00000484464.1:p.His136LeufsTer13
ENST00000613706.4:c.464del	ENSP00000484976.1:p.His155LeufsTer13
ENST00000617164.4:c.1760del	ENSP00000480470.1:p.His587LeufsTer13
ENST00000619009.4:c.365-14645del	ENSP00000482293.1:n.365-14645del
ENST00000620057.4:c.*483del	ENSP00000481988.1:n.*483del
NM_000465.3:c.1817del	NP_000456.2:p.His606LeufsTer13
NM_001282543.1:c.1760del	NP_001269472.1:p.His587LeufsTer13
NM_001282545.1:c.464del	NP_001269474.1:p.His155LeufsTer13
NM_001282548.1:c.407del	NP_001269477.1:p.His136LeufsTer13
NM_001282549.1:c.365-14645del	NP_001269478.1:n.365-14645del
NR_104212.1:n.1810del
NR_104215.1:n.1753del
NR_104216.1:n.1009del
XM_011511567.1:c.1763del	XP_011509869.1:p.His588LeufsTer13
XM_011511568.1:c.1817del	XP_011509870.1:p.His606LeufsTer13
XM_017004613.1:c.1916del	XP_016860102.1:p.His639LeufsTer13
XM_017004614.1:c.1916del	XP_016860103.1:p.His639LeufsTer13
XR_002959322.1:n.2007del
NM_000465.4:c.1817del MANE Select	NP_000456.2:p.His606LeufsTer13
NM_001282543.2:c.1760del	NP_001269472.1:p.His587LeufsTer13
NM_001282545.2:c.464del	NP_001269474.1:p.His155LeufsTer13
NM_001282548.2:c.407del	NP_001269477.1:p.His136LeufsTer13
NM_001282549.2:c.365-14645del	NP_001269478.1:n.365-14645del
NR_104212.2:n.1782del
NR_104215.2:n.1725del
NR_104216.2:n.981del