Canonical Allele Identifier: CA2582342070

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583241
• ClinVar RCV Id: RCV003336912

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214752492_214752496del , CM000664.2:g.214752492_214752496del	GRCh38
NC_000002.11:g.215617216_215617220del , CM000664.1:g.215617216_215617220del	GRCh37
NC_000002.10:g.215325461_215325465del	NCBI36
NG_012047.2:g.62209_62213del
NG_012047.3:g.62216_62220del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1628_1632del MANE Select	ENSP00000260947.4:p.Leu543SerfsTer6
ENST00000421162.2:c.275_279del	ENSP00000392245.2:p.Leu92SerfsTer6
ENST00000613192.2:c.159-21988_159-21984del	ENSP00000483275.2:n.159-21988_159-21984de...
ENST00000613374.5:c.218_222del	ENSP00000484464.1:p.Leu73SerfsTer6
ENST00000613706.5:c.1220_1224del	ENSP00000484976.2:p.Leu407SerfsTer6
ENST00000617164.5:c.1571_1575del	ENSP00000480470.1:p.Leu524SerfsTer6
ENST00000619009.5:c.365-21988_365-21984del	ENSP00000482293.1:n.365-21988_365-21984de...
ENST00000650978.1:c.3003_3007del
ENST00000260947.8:c.1628_1632del	ENSP00000260947.4:p.Leu543SerfsTer6
ENST00000421162.1:c.275_279del	ENSP00000392245.1:p.Leu92SerfsTer6
ENST00000455743.5:c.*1248_*1252del	ENSP00000412186.1:n.*1248_*1252del
ENST00000613192.1:c.74-21988_74-21984del	ENSP00000483275.1:n.74-21988_74-21984del
ENST00000613374.4:c.218_222del	ENSP00000484464.1:p.Leu73SerfsTer6
ENST00000613706.4:c.275_279del	ENSP00000484976.1:p.Leu92SerfsTer6
ENST00000617164.4:c.1571_1575del	ENSP00000480470.1:p.Leu524SerfsTer6
ENST00000619009.4:c.365-21988_365-21984del	ENSP00000482293.1:n.365-21988_365-21984de...
ENST00000620057.4:c.*294_*298del	ENSP00000481988.1:n.*294_*298del
NM_000465.3:c.1628_1632del	NP_000456.2:p.Leu543SerfsTer6
NM_001282543.1:c.1571_1575del	NP_001269472.1:p.Leu524SerfsTer6
NM_001282545.1:c.275_279del	NP_001269474.1:p.Leu92SerfsTer6
NM_001282548.1:c.218_222del	NP_001269477.1:p.Leu73SerfsTer6
NM_001282549.1:c.365-21988_365-21984del	NP_001269478.1:n.365-21988_365-21984del
NR_104212.1:n.1621_1625del
NR_104215.1:n.1564_1568del
NR_104216.1:n.820_824del
XM_011511567.1:c.1574_1578del	XP_011509869.1:p.Leu525SerfsTer6
XM_011511568.1:c.1628_1632del	XP_011509870.1:p.Leu543SerfsTer6
XM_017004613.1:c.1727_1731del	XP_016860102.1:p.Leu576SerfsTer6
XM_017004614.1:c.1727_1731del	XP_016860103.1:p.Leu576SerfsTer6
XR_002959322.1:n.1818_1822del
NM_000465.4:c.1628_1632del MANE Select	NP_000456.2:p.Leu543SerfsTer6
NM_001282543.2:c.1571_1575del	NP_001269472.1:p.Leu524SerfsTer6
NM_001282545.2:c.275_279del	NP_001269474.1:p.Leu92SerfsTer6
NM_001282548.2:c.218_222del	NP_001269477.1:p.Leu73SerfsTer6
NM_001282549.2:c.365-21988_365-21984del	NP_001269478.1:n.365-21988_365-21984del
NR_104212.2:n.1593_1597del
NR_104215.2:n.1536_1540del
NR_104216.2:n.792_796del