Canonical Allele Identifier: CA2582342056

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2585709
• ClinVar RCV Id: RCV003358174

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730452del , CM000664.2:g.214730452del	GRCh38
NC_000002.11:g.215595176del , CM000664.1:g.215595176del	GRCh37
NC_000002.10:g.215303421del	NCBI36
NG_012047.2:g.84254del
NG_012047.3:g.84261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1961del MANE Select	ENSP00000260947.4:p.Pro654LeufsTer?
ENST00000421162.2:c.608del	ENSP00000392245.2:p.Pro203LeufsTer?
ENST00000613192.2:c.*24del	ENSP00000483275.2:n.*24del
ENST00000613374.5:c.551del	ENSP00000484464.1:p.Pro184LeufsTer?
ENST00000613706.5:c.1553del	ENSP00000484976.2:p.Pro518LeufsTer?
ENST00000617164.5:c.1904del	ENSP00000480470.1:p.Pro635LeufsTer?
ENST00000619009.5:c.422del	ENSP00000482293.1:p.Pro141LeufsTer?
ENST00000650978.1:c.3336del
ENST00000260947.8:c.1961del	ENSP00000260947.4:p.Pro654LeufsTer?
ENST00000421162.1:c.608del	ENSP00000392245.1:p.Pro203LeufsTer?
ENST00000432456.5:c.58del
ENST00000455743.5:c.*1581del	ENSP00000412186.1:n.*1581del
ENST00000471590.5:n.296del
ENST00000613192.1:c.131del	ENSP00000483275.1:p.Pro44LeufsTer?
ENST00000613374.4:c.551del	ENSP00000484464.1:p.Pro184LeufsTer?
ENST00000613706.4:c.608del	ENSP00000484976.1:p.Pro203LeufsTer?
ENST00000617164.4:c.1904del	ENSP00000480470.1:p.Pro635LeufsTer?
ENST00000619009.4:c.422del	ENSP00000482293.1:p.Pro141LeufsTer?
ENST00000620057.4:c.*627del	ENSP00000481988.1:n.*627del
NM_000465.3:c.1961del	NP_000456.2:p.Pro654LeufsTer?
NM_001282543.1:c.1904del	NP_001269472.1:p.Pro635LeufsTer?
NM_001282545.1:c.608del	NP_001269474.1:p.Pro203LeufsTer?
NM_001282548.1:c.551del	NP_001269477.1:p.Pro184LeufsTer?
NM_001282549.1:c.422del	NP_001269478.1:p.Pro141LeufsTer?
NR_104212.1:n.1954del
NR_104215.1:n.1897del
NR_104216.1:n.1153del
XM_011511567.1:c.1907del	XP_011509869.1:p.Pro636LeufsTer?
XM_017004613.1:c.2060del	XP_016860102.1:p.Pro687LeufsTer?
XR_002959322.1:n.2151del
NM_000465.4:c.1961del MANE Select	NP_000456.2:p.Pro654LeufsTer?
NM_001282543.2:c.1904del	NP_001269472.1:p.Pro635LeufsTer?
NM_001282545.2:c.608del	NP_001269474.1:p.Pro203LeufsTer?
NM_001282548.2:c.551del	NP_001269477.1:p.Pro184LeufsTer?
NM_001282549.2:c.422del	NP_001269478.1:p.Pro141LeufsTer?
NR_104212.2:n.1926del
NR_104215.2:n.1869del
NR_104216.2:n.1125del