Canonical Allele Identifier: CA197666

Gene: BARD1

Linked Data

• ClinVar Variation Id: 187445
• ClinVar RCV Id: RCV000167174 ; RCV001377223
• dbSNP Id: rs786203739
• MyVariant Identifiers: chr2:g.215595166del (hg19) ; chr2:g.214730442del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730443del , CM000664.2:g.214730443del	GRCh38
NC_000002.11:g.215595167del , CM000664.1:g.215595167del	GRCh37
NC_000002.10:g.215303412del	NCBI36
NG_012047.2:g.84263del
NG_012047.3:g.84270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1970del MANE Select	ENSP00000260947.4:p.Pro657HisfsTer?
ENST00000421162.2:c.617del	ENSP00000392245.2:p.Pro206HisfsTer?
ENST00000613192.2:c.*33del	ENSP00000483275.2:n.*33del
ENST00000613374.5:c.560del	ENSP00000484464.1:p.Pro187HisfsTer?
ENST00000613706.5:c.1562del	ENSP00000484976.2:p.Pro521HisfsTer?
ENST00000617164.5:c.1913del	ENSP00000480470.1:p.Pro638HisfsTer?
ENST00000619009.5:c.431del	ENSP00000482293.1:p.Pro144HisfsTer?
ENST00000650978.1:c.3345del
ENST00000260947.8:c.1970del	ENSP00000260947.4:p.Pro657HisfsTer?
ENST00000421162.1:c.617del	ENSP00000392245.1:p.Pro206HisfsTer?
ENST00000432456.5:c.67del
ENST00000455743.5:c.*1590del	ENSP00000412186.1:n.*1590del
ENST00000471590.5:n.305del
ENST00000613192.1:c.140del	ENSP00000483275.1:p.Pro47HisfsTer?
ENST00000613374.4:c.560del	ENSP00000484464.1:p.Pro187HisfsTer?
ENST00000613706.4:c.617del	ENSP00000484976.1:p.Pro206HisfsTer?
ENST00000617164.4:c.1913del	ENSP00000480470.1:p.Pro638HisfsTer?
ENST00000619009.4:c.431del	ENSP00000482293.1:p.Pro144HisfsTer?
ENST00000620057.4:c.*636del	ENSP00000481988.1:n.*636del
NM_000465.3:c.1970del	NP_000456.2:p.Pro657HisfsTer?
NM_001282543.1:c.1913del	NP_001269472.1:p.Pro638HisfsTer?
NM_001282545.1:c.617del	NP_001269474.1:p.Pro206HisfsTer?
NM_001282548.1:c.560del	NP_001269477.1:p.Pro187HisfsTer?
NM_001282549.1:c.431del	NP_001269478.1:p.Pro144HisfsTer?
NR_104212.1:n.1963del
NR_104215.1:n.1906del
NR_104216.1:n.1162del
XM_011511567.1:c.1916del	XP_011509869.1:p.Pro639HisfsTer?
XM_017004613.1:c.2069del	XP_016860102.1:p.Pro690HisfsTer?
XR_002959322.1:n.2160del
NM_000465.4:c.1970del MANE Select	NP_000456.2:p.Pro657HisfsTer?
NM_001282543.2:c.1913del	NP_001269472.1:p.Pro638HisfsTer?
NM_001282545.2:c.617del	NP_001269474.1:p.Pro206HisfsTer?
NM_001282548.2:c.560del	NP_001269477.1:p.Pro187HisfsTer?
NM_001282549.2:c.431del	NP_001269478.1:p.Pro144HisfsTer?
NR_104212.2:n.1935del
NR_104215.2:n.1878del
NR_104216.2:n.1134del