Canonical Allele Identifier: CA658657205

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479156
• ClinVar RCV Id: RCV000572418
• dbSNP Id: rs1553622342
• MyVariant Identifiers: chr2:g.215645677_215645678del (hg19) ; chr2:g.214780953_214780954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780954_214780955del , CM000664.2:g.214780954_214780955del	GRCh38
NC_000002.11:g.215645678_215645679del , CM000664.1:g.215645678_215645679del	GRCh37
NC_000002.10:g.215353923_215353924del	NCBI36
NG_012047.2:g.33751_33752del
NG_012047.3:g.33758_33759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.920_921del MANE Select	ENSP00000260947.4:p.Tyr307SerfsTer4
ENST00000421162.2:c.215+16107_215+16108del	ENSP00000392245.2:n.215+16107_215+16108del
ENST00000613192.2:c.158+28458_158+28459del	ENSP00000483275.2:n.158+28458_158+28459del
ENST00000613374.5:c.159-28399_159-28398del	ENSP00000484464.1:n.159-28399_159-28398del
ENST00000613706.5:c.906+14_906+15del	ENSP00000484976.2:n.906+14_906+15del
ENST00000617164.5:c.863_864del	ENSP00000480470.1:p.Tyr288SerfsTer4
ENST00000619009.5:c.364+11343_364+11344del	ENSP00000482293.1:n.364+11343_364+11344del
ENST00000650978.1:c.762_763del
ENST00000260947.8:c.920_921del	ENSP00000260947.4:p.Tyr307SerfsTer4
ENST00000421162.1:c.215+16107_215+16108del	ENSP00000392245.1:n.215+16107_215+16108del
ENST00000455743.5:c.*540_*541del	ENSP00000412186.1:n.*540_*541del
ENST00000471787.1:n.815_816del
ENST00000613192.1:c.73+28458_73+28459del	ENSP00000483275.1:n.73+28458_73+28459del
ENST00000613374.4:c.159-28399_159-28398del	ENSP00000484464.1:n.159-28399_159-28398del
ENST00000613706.4:c.215+16107_215+16108del	ENSP00000484976.1:n.215+16107_215+16108del
ENST00000617164.4:c.863_864del	ENSP00000480470.1:p.Tyr288SerfsTer4
ENST00000619009.4:c.364+11343_364+11344del	ENSP00000482293.1:n.364+11343_364+11344del
ENST00000620057.4:c.364+11343_364+11344del	ENSP00000481988.1:n.364+11343_364+11344del
NM_000465.3:c.920_921del	NP_000456.2:p.Tyr307SerfsTer4
NM_001282543.1:c.863_864del	NP_001269472.1:p.Tyr288SerfsTer4
NM_001282545.1:c.215+16107_215+16108del	NP_001269474.1:n.215+16107_215+16108del
NM_001282548.1:c.159-28399_159-28398del	NP_001269477.1:n.159-28399_159-28398del
NM_001282549.1:c.364+11343_364+11344del	NP_001269478.1:n.364+11343_364+11344del
NR_104212.1:n.913_914del
NR_104215.1:n.856_857del
NR_104216.1:n.506+11343_506+11344del
XM_011511567.1:c.866_867del	XP_011509869.1:p.Tyr289SerfsTer4
XM_011511568.1:c.920_921del	XP_011509870.1:p.Tyr307SerfsTer4
XM_017004613.1:c.1019_1020del	XP_016860102.1:p.Tyr340SerfsTer4
XM_017004614.1:c.1019_1020del	XP_016860103.1:p.Tyr340SerfsTer4
XR_002959322.1:n.1110_1111del
NM_000465.4:c.920_921del MANE Select	NP_000456.2:p.Tyr307SerfsTer4
NM_001282543.2:c.863_864del	NP_001269472.1:p.Tyr288SerfsTer4
NM_001282545.2:c.215+16107_215+16108del	NP_001269474.1:n.215+16107_215+16108del
NM_001282548.2:c.159-28399_159-28398del	NP_001269477.1:n.159-28399_159-28398del
NM_001282549.2:c.364+11343_364+11344del	NP_001269478.1:n.364+11343_364+11344del
NR_104212.2:n.885_886del
NR_104215.2:n.828_829del
NR_104216.2:n.478+11343_478+11344del