Canonical Allele Identifier: CA2582342108

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583631
• ClinVar RCV Id: RCV003334553

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780890_214780902del , CM000664.2:g.214780890_214780902del	GRCh38
NC_000002.11:g.215645614_215645626del , CM000664.1:g.215645614_215645626del	GRCh37
NC_000002.10:g.215353859_215353871del	NCBI36
NG_012047.2:g.33805_33817del
NG_012047.3:g.33812_33824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.974_986del MANE Select	ENSP00000260947.4:p.His325ProfsTer13
ENST00000421162.2:c.215+16161_215+16173del	ENSP00000392245.2:n.215+16161_215+16173del
ENST00000613192.2:c.158+28512_158+28524del	ENSP00000483275.2:n.158+28512_158+28524del
ENST00000613374.5:c.159-28345_159-28333del	ENSP00000484464.1:n.159-28345_159-28333del
ENST00000613706.5:c.906+68_906+80del	ENSP00000484976.2:n.906+68_906+80del
ENST00000617164.5:c.917_929del	ENSP00000480470.1:p.His306ProfsTer13
ENST00000619009.5:c.364+11397_364+11409del	ENSP00000482293.1:n.364+11397_364+11409del
ENST00000650978.1:c.816_828del
ENST00000260947.8:c.974_986del	ENSP00000260947.4:p.His325ProfsTer13
ENST00000421162.1:c.215+16161_215+16173del	ENSP00000392245.1:n.215+16161_215+16173del
ENST00000455743.5:c.*594_*606del	ENSP00000412186.1:n.*594_*606del
ENST00000613192.1:c.73+28512_73+28524del	ENSP00000483275.1:n.73+28512_73+28524del
ENST00000613374.4:c.159-28345_159-28333del	ENSP00000484464.1:n.159-28345_159-28333del
ENST00000613706.4:c.215+16161_215+16173del	ENSP00000484976.1:n.215+16161_215+16173del
ENST00000617164.4:c.917_929del	ENSP00000480470.1:p.His306ProfsTer13
ENST00000619009.4:c.364+11397_364+11409del	ENSP00000482293.1:n.364+11397_364+11409del
ENST00000620057.4:c.364+11397_364+11409del	ENSP00000481988.1:n.364+11397_364+11409del
NM_000465.3:c.974_986del	NP_000456.2:p.His325ProfsTer13
NM_001282543.1:c.917_929del	NP_001269472.1:p.His306ProfsTer13
NM_001282545.1:c.215+16161_215+16173del	NP_001269474.1:n.215+16161_215+16173del
NM_001282548.1:c.159-28345_159-28333del	NP_001269477.1:n.159-28345_159-28333del
NM_001282549.1:c.364+11397_364+11409del	NP_001269478.1:n.364+11397_364+11409del
NR_104212.1:n.967_979del
NR_104215.1:n.910_922del
NR_104216.1:n.506+11397_506+11409del
XM_011511567.1:c.920_932del	XP_011509869.1:p.His307ProfsTer13
XM_011511568.1:c.974_986del	XP_011509870.1:p.His325ProfsTer13
XM_017004613.1:c.1073_1085del	XP_016860102.1:p.His358ProfsTer13
XM_017004614.1:c.1073_1085del	XP_016860103.1:p.His358ProfsTer13
XR_002959322.1:n.1164_1176del
NM_000465.4:c.974_986del MANE Select	NP_000456.2:p.His325ProfsTer13
NM_001282543.2:c.917_929del	NP_001269472.1:p.His306ProfsTer13
NM_001282545.2:c.215+16161_215+16173del	NP_001269474.1:n.215+16161_215+16173del
NM_001282548.2:c.159-28345_159-28333del	NP_001269477.1:n.159-28345_159-28333del
NM_001282549.2:c.364+11397_364+11409del	NP_001269478.1:n.364+11397_364+11409del
NR_104212.2:n.939_951del
NR_104215.2:n.882_894del
NR_104216.2:n.478+11397_478+11409del