Canonical Allele Identifier: CA2582342112

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583578
• ClinVar RCV Id: RCV003334500

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781412_214781415del , CM000664.2:g.214781412_214781415del	GRCh38
NC_000002.11:g.215646136_215646139del , CM000664.1:g.215646136_215646139del	GRCh37
NC_000002.10:g.215354381_215354384del	NCBI36
NG_012047.2:g.33292_33295del
NG_012047.3:g.33299_33302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.461_464del MANE Select	ENSP00000260947.4:p.Val154AspfsTer4
ENST00000421162.2:c.215+15648_215+15651del	ENSP00000392245.2:n.215+15648_215+15651del
ENST00000613192.2:c.158+27999_158+28002del	ENSP00000483275.2:n.158+27999_158+28002del
ENST00000613374.5:c.158+27999_158+28002del	ENSP00000484464.1:n.158+27999_158+28002del
ENST00000613706.5:c.461_464del	ENSP00000484976.2:p.Val154AspfsTer4
ENST00000617164.5:c.404_407del	ENSP00000480470.1:p.Val135AspfsTer4
ENST00000619009.5:c.364+10884_364+10887del	ENSP00000482293.1:n.364+10884_364+10887del
ENST00000650978.1:c.303_306del
ENST00000260947.8:c.461_464del	ENSP00000260947.4:p.Val154AspfsTer4
ENST00000421162.1:c.215+15648_215+15651del	ENSP00000392245.1:n.215+15648_215+15651del
ENST00000455743.5:c.*81_*84del	ENSP00000412186.1:n.*81_*84del
ENST00000471787.1:n.356_359del
ENST00000613192.1:c.73+27999_73+28002del	ENSP00000483275.1:n.73+27999_73+28002del
ENST00000613374.4:c.158+27999_158+28002del	ENSP00000484464.1:n.158+27999_158+28002del
ENST00000613706.4:c.215+15648_215+15651del	ENSP00000484976.1:n.215+15648_215+15651del
ENST00000617164.4:c.404_407del	ENSP00000480470.1:p.Val135AspfsTer4
ENST00000619009.4:c.364+10884_364+10887del	ENSP00000482293.1:n.364+10884_364+10887del
ENST00000620057.4:c.364+10884_364+10887del	ENSP00000481988.1:n.364+10884_364+10887del
NM_000465.3:c.461_464del	NP_000456.2:p.Val154AspfsTer4
NM_001282543.1:c.404_407del	NP_001269472.1:p.Val135AspfsTer4
NM_001282545.1:c.215+15648_215+15651del	NP_001269474.1:n.215+15648_215+15651del
NM_001282548.1:c.158+27999_158+28002del	NP_001269477.1:n.158+27999_158+28002del
NM_001282549.1:c.364+10884_364+10887del	NP_001269478.1:n.364+10884_364+10887del
NR_104212.1:n.454_457del
NR_104215.1:n.397_400del
NR_104216.1:n.506+10884_506+10887del
XM_011511567.1:c.407_410del	XP_011509869.1:p.Val136AspfsTer4
XM_011511568.1:c.461_464del	XP_011509870.1:p.Val154AspfsTer4
XM_017004613.1:c.560_563del	XP_016860102.1:p.Val187AspfsTer4
XM_017004614.1:c.560_563del	XP_016860103.1:p.Val187AspfsTer4
XR_002959322.1:n.651_654del
NM_000465.4:c.461_464del MANE Select	NP_000456.2:p.Val154AspfsTer4
NM_001282543.2:c.404_407del	NP_001269472.1:p.Val135AspfsTer4
NM_001282545.2:c.215+15648_215+15651del	NP_001269474.1:n.215+15648_215+15651del
NM_001282548.2:c.158+27999_158+28002del	NP_001269477.1:n.158+27999_158+28002del
NM_001282549.2:c.364+10884_364+10887del	NP_001269478.1:n.364+10884_364+10887del
NR_104212.2:n.426_429del
NR_104215.2:n.369_372del
NR_104216.2:n.478+10884_478+10887del