Canonical Allele Identifier: CA915941690

Gene: BARD1

Linked Data

• ClinVar Variation Id: 647969
• ClinVar RCV Id: RCV000802595
• dbSNP Id: rs1574819364

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781086_214781091del , CM000664.2:g.214781086_214781091del	GRCh38
NC_000002.11:g.215645810_215645815del , CM000664.1:g.215645810_215645815del	GRCh37
NC_000002.10:g.215354055_215354060del	NCBI36
NG_012047.2:g.33614_33619del
NG_012047.3:g.33621_33626del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.783_788del MANE Select	ENSP00000260947.4:p.Ala262_Ser263del
ENST00000421162.2:c.215+15970_215+15975del	ENSP00000392245.2:n.215+15970_215+15975del
ENST00000613192.2:c.158+28321_158+28326del	ENSP00000483275.2:n.158+28321_158+28326del
ENST00000613374.5:c.158+28321_158+28326del	ENSP00000484464.1:n.158+28321_158+28326del
ENST00000613706.5:c.783_788del	ENSP00000484976.2:p.Ala262_Ser263del
ENST00000617164.5:c.726_731del	ENSP00000480470.1:p.Ala243_Ser244del
ENST00000619009.5:c.364+11206_364+11211del	ENSP00000482293.1:n.364+11206_364+11211del
ENST00000650978.1:c.625_630del
ENST00000260947.8:c.783_788del	ENSP00000260947.4:p.Ala262_Ser263del
ENST00000421162.1:c.215+15970_215+15975del	ENSP00000392245.1:n.215+15970_215+15975del
ENST00000455743.5:c.*403_*408del	ENSP00000412186.1:n.*403_*408del
ENST00000471787.1:n.678_683del
ENST00000613192.1:c.73+28321_73+28326del	ENSP00000483275.1:n.73+28321_73+28326del
ENST00000613374.4:c.158+28321_158+28326del	ENSP00000484464.1:n.158+28321_158+28326del
ENST00000613706.4:c.215+15970_215+15975del	ENSP00000484976.1:n.215+15970_215+15975del
ENST00000617164.4:c.726_731del	ENSP00000480470.1:p.Ala243_Ser244del
ENST00000619009.4:c.364+11206_364+11211del	ENSP00000482293.1:n.364+11206_364+11211del
ENST00000620057.4:c.364+11206_364+11211del	ENSP00000481988.1:n.364+11206_364+11211del
NM_000465.3:c.783_788del	NP_000456.2:p.Ala262_Ser263del
NM_001282543.1:c.726_731del	NP_001269472.1:p.Ala243_Ser244del
NM_001282545.1:c.215+15970_215+15975del	NP_001269474.1:n.215+15970_215+15975del
NM_001282548.1:c.158+28321_158+28326del	NP_001269477.1:n.158+28321_158+28326del
NM_001282549.1:c.364+11206_364+11211del	NP_001269478.1:n.364+11206_364+11211del
NR_104212.1:n.776_781del
NR_104215.1:n.719_724del
NR_104216.1:n.506+11206_506+11211del
XM_011511567.1:c.729_734del	XP_011509869.1:p.Ala244_Ser245del
XM_011511568.1:c.783_788del	XP_011509870.1:p.Ala262_Ser263del
XM_017004613.1:c.882_887del	XP_016860102.1:p.Ala295_Ser296del
XM_017004614.1:c.882_887del	XP_016860103.1:p.Ala295_Ser296del
XR_002959322.1:n.973_978del
NM_000465.4:c.783_788del MANE Select	NP_000456.2:p.Ala262_Ser263del
NM_001282543.2:c.726_731del	NP_001269472.1:p.Ala243_Ser244del
NM_001282545.2:c.215+15970_215+15975del	NP_001269474.1:n.215+15970_215+15975del
NM_001282548.2:c.158+28321_158+28326del	NP_001269477.1:n.158+28321_158+28326del
NM_001282549.2:c.364+11206_364+11211del	NP_001269478.1:n.364+11206_364+11211del
NR_104212.2:n.748_753del
NR_104215.2:n.691_696del
NR_104216.2:n.478+11206_478+11211del