Canonical Allele Identifier: CA16610597

Gene: BARD1

Linked Data

• ClinVar Variation Id: 406733
• ClinVar RCV Id: RCV000469970 ; RCV001022039
• dbSNP Id: rs1060501278
• MyVariant Identifiers: chr2:g.215646176_215646178del (hg19) ; chr2:g.214781452_214781454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781457_214781459del , CM000664.2:g.214781457_214781459del	GRCh38
NC_000002.11:g.215646181_215646183del , CM000664.1:g.215646181_215646183del	GRCh37
NC_000002.10:g.215354426_215354428del	NCBI36
NG_012047.2:g.33251_33253del
NG_012047.3:g.33258_33260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.420_422del MANE Select	ENSP00000260947.4:p.Lys140del
ENST00000421162.2:c.215+15607_215+15609del	ENSP00000392245.2:n.215+15607_215+15609del
ENST00000613192.2:c.158+27958_158+27960del	ENSP00000483275.2:n.158+27958_158+27960del
ENST00000613374.5:c.158+27958_158+27960del	ENSP00000484464.1:n.158+27958_158+27960del
ENST00000613706.5:c.420_422del	ENSP00000484976.2:p.Lys140del
ENST00000617164.5:c.363_365del	ENSP00000480470.1:p.Lys121del
ENST00000619009.5:c.364+10843_364+10845del	ENSP00000482293.1:n.364+10843_364+10845del
ENST00000650978.1:c.262_264del
ENST00000260947.8:c.420_422del	ENSP00000260947.4:p.Lys140del
ENST00000421162.1:c.215+15607_215+15609del	ENSP00000392245.1:n.215+15607_215+15609del
ENST00000455743.5:c.*40_*42del	ENSP00000412186.1:n.*40_*42del
ENST00000471787.1:n.315_317del
ENST00000613192.1:c.73+27958_73+27960del	ENSP00000483275.1:n.73+27958_73+27960del
ENST00000613374.4:c.158+27958_158+27960del	ENSP00000484464.1:n.158+27958_158+27960del
ENST00000613706.4:c.215+15607_215+15609del	ENSP00000484976.1:n.215+15607_215+15609del
ENST00000617164.4:c.363_365del	ENSP00000480470.1:p.Lys121del
ENST00000619009.4:c.364+10843_364+10845del	ENSP00000482293.1:n.364+10843_364+10845del
ENST00000620057.4:c.364+10843_364+10845del	ENSP00000481988.1:n.364+10843_364+10845del
NM_000465.3:c.420_422del	NP_000456.2:p.Lys140del
NM_001282543.1:c.363_365del	NP_001269472.1:p.Lys121del
NM_001282545.1:c.215+15607_215+15609del	NP_001269474.1:n.215+15607_215+15609del
NM_001282548.1:c.158+27958_158+27960del	NP_001269477.1:n.158+27958_158+27960del
NM_001282549.1:c.364+10843_364+10845del	NP_001269478.1:n.364+10843_364+10845del
NR_104212.1:n.413_415del
NR_104215.1:n.356_358del
NR_104216.1:n.506+10843_506+10845del
XM_011511567.1:c.366_368del	XP_011509869.1:p.Lys122del
XM_011511568.1:c.420_422del	XP_011509870.1:p.Lys140del
XM_017004613.1:c.519_521del	XP_016860102.1:p.Lys173del
XM_017004614.1:c.519_521del	XP_016860103.1:p.Lys173del
XR_002959322.1:n.610_612del
NM_000465.4:c.420_422del MANE Select	NP_000456.2:p.Lys140del
NM_001282543.2:c.363_365del	NP_001269472.1:p.Lys121del
NM_001282545.2:c.215+15607_215+15609del	NP_001269474.1:n.215+15607_215+15609del
NM_001282548.2:c.158+27958_158+27960del	NP_001269477.1:n.158+27958_158+27960del
NM_001282549.2:c.364+10843_364+10845del	NP_001269478.1:n.364+10843_364+10845del
NR_104212.2:n.385_387del
NR_104215.2:n.328_330del
NR_104216.2:n.478+10843_478+10845del