Canonical Allele Identifier: CA645528600

Gene: BARD1

Linked Data

• COSMIC: COSM2154271 ; COSM2154272

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745133del , CM000664.2:g.214745133del	GRCh38
NC_000002.11:g.215609857del , CM000664.1:g.215609857del	GRCh37
NC_000002.10:g.215318102del	NCBI36
NG_012047.2:g.69572del
NG_012047.3:g.69579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1837del MANE Select	ENSP00000260947.4:p.Ala613GlnfsTer6
ENST00000421162.2:c.484del	ENSP00000392245.2:p.Ala162GlnfsTer6
ENST00000613192.2:c.159-14625del	ENSP00000483275.2:n.159-14625del
ENST00000613374.5:c.427del	ENSP00000484464.1:p.Ala143GlnfsTer6
ENST00000613706.5:c.1429del	ENSP00000484976.2:p.Ala477GlnfsTer6
ENST00000617164.5:c.1780del	ENSP00000480470.1:p.Ala594GlnfsTer6
ENST00000619009.5:c.365-14625del	ENSP00000482293.1:n.365-14625del
ENST00000650978.1:c.3212del
ENST00000260947.8:c.1837del	ENSP00000260947.4:p.Ala613GlnfsTer6
ENST00000421162.1:c.484del	ENSP00000392245.1:p.Ala162GlnfsTer6
ENST00000455743.5:c.*1457del	ENSP00000412186.1:n.*1457del
ENST00000613192.1:c.74-14625del	ENSP00000483275.1:n.74-14625del
ENST00000613374.4:c.427del	ENSP00000484464.1:p.Ala143GlnfsTer6
ENST00000613706.4:c.484del	ENSP00000484976.1:p.Ala162GlnfsTer6
ENST00000617164.4:c.1780del	ENSP00000480470.1:p.Ala594GlnfsTer6
ENST00000619009.4:c.365-14625del	ENSP00000482293.1:n.365-14625del
ENST00000620057.4:c.*503del	ENSP00000481988.1:n.*503del
NM_000465.3:c.1837del	NP_000456.2:p.Ala613GlnfsTer6
NM_001282543.1:c.1780del	NP_001269472.1:p.Ala594GlnfsTer6
NM_001282545.1:c.484del	NP_001269474.1:p.Ala162GlnfsTer6
NM_001282548.1:c.427del	NP_001269477.1:p.Ala143GlnfsTer6
NM_001282549.1:c.365-14625del	NP_001269478.1:n.365-14625del
NR_104212.1:n.1830del
NR_104215.1:n.1773del
NR_104216.1:n.1029del
XM_011511567.1:c.1783del	XP_011509869.1:p.Ala595GlnfsTer6
XM_011511568.1:c.1837del	XP_011509870.1:p.Ala613GlnfsTer6
XM_017004613.1:c.1936del	XP_016860102.1:p.Ala646GlnfsTer6
XM_017004614.1:c.1936del	XP_016860103.1:p.Ala646GlnfsTer6
XR_002959322.1:n.2027del
NM_000465.4:c.1837del MANE Select	NP_000456.2:p.Ala613GlnfsTer6
NM_001282543.2:c.1780del	NP_001269472.1:p.Ala594GlnfsTer6
NM_001282545.2:c.484del	NP_001269474.1:p.Ala162GlnfsTer6
NM_001282548.2:c.427del	NP_001269477.1:p.Ala143GlnfsTer6
NM_001282549.2:c.365-14625del	NP_001269478.1:n.365-14625del
NR_104212.2:n.1802del
NR_104215.2:n.1745del
NR_104216.2:n.1001del