Canonical Allele Identifier: CA1327071373

Gene: BARD1

Linked Data

• dbSNP Id: rs1695007215

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781237_214781238insT , CM000664.2:g.214781237_214781238insT	GRCh38
NC_000002.11:g.215645961_215645962insT , CM000664.1:g.215645961_215645962insT	GRCh37
NC_000002.10:g.215354206_215354207insT	NCBI36
NG_012047.2:g.33467_33468insA
NG_012047.3:g.33474_33475insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.636_637insA MANE Select	ENSP00000260947.4:p.Glu213ArgfsTer16
ENST00000421162.2:c.215+15823_215+15824insA	ENSP00000392245.2:n.215+15823_215+15824insA
ENST00000613192.2:c.158+28174_158+28175insA	ENSP00000483275.2:n.158+28174_158+28175insA
ENST00000613374.5:c.158+28174_158+28175insA	ENSP00000484464.1:n.158+28174_158+28175insA
ENST00000613706.5:c.636_637insA	ENSP00000484976.2:p.Glu213ArgfsTer16
ENST00000617164.5:c.579_580insA	ENSP00000480470.1:p.Glu194ArgfsTer16
ENST00000619009.5:c.364+11059_364+11060insA	ENSP00000482293.1:n.364+11059_364+11060insA
ENST00000650978.1:c.478_479insA
ENST00000260947.8:c.636_637insA	ENSP00000260947.4:p.Glu213ArgfsTer16
ENST00000421162.1:c.215+15823_215+15824insA	ENSP00000392245.1:n.215+15823_215+15824insA
ENST00000455743.5:c.*256_*257insA	ENSP00000412186.1:n.*256_*257insA
ENST00000471787.1:n.531_532insA
ENST00000613192.1:c.73+28174_73+28175insA	ENSP00000483275.1:n.73+28174_73+28175insA
ENST00000613374.4:c.158+28174_158+28175insA	ENSP00000484464.1:n.158+28174_158+28175insA
ENST00000613706.4:c.215+15823_215+15824insA	ENSP00000484976.1:n.215+15823_215+15824insA
ENST00000617164.4:c.579_580insA	ENSP00000480470.1:p.Glu194ArgfsTer16
ENST00000619009.4:c.364+11059_364+11060insA	ENSP00000482293.1:n.364+11059_364+11060insA
ENST00000620057.4:c.364+11059_364+11060insA	ENSP00000481988.1:n.364+11059_364+11060insA
NM_000465.3:c.636_637insA	NP_000456.2:p.Glu213ArgfsTer16
NM_001282543.1:c.579_580insA	NP_001269472.1:p.Glu194ArgfsTer16
NM_001282545.1:c.215+15823_215+15824insA	NP_001269474.1:n.215+15823_215+15824insA
NM_001282548.1:c.158+28174_158+28175insA	NP_001269477.1:n.158+28174_158+28175insA
NM_001282549.1:c.364+11059_364+11060insA	NP_001269478.1:n.364+11059_364+11060insA
NR_104212.1:n.629_630insA
NR_104215.1:n.572_573insA
NR_104216.1:n.506+11059_506+11060insA
XM_011511567.1:c.582_583insA	XP_011509869.1:p.Glu195ArgfsTer16
XM_011511568.1:c.636_637insA	XP_011509870.1:p.Glu213ArgfsTer16
XM_017004613.1:c.735_736insA	XP_016860102.1:p.Glu246ArgfsTer16
XM_017004614.1:c.735_736insA	XP_016860103.1:p.Glu246ArgfsTer16
XR_002959322.1:n.826_827insA
NM_000465.4:c.636_637insA MANE Select	NP_000456.2:p.Glu213ArgfsTer16
NM_001282543.2:c.579_580insA	NP_001269472.1:p.Glu194ArgfsTer16
NM_001282545.2:c.215+15823_215+15824insA	NP_001269474.1:n.215+15823_215+15824insA
NM_001282548.2:c.158+28174_158+28175insA	NP_001269477.1:n.158+28174_158+28175insA
NM_001282549.2:c.364+11059_364+11060insA	NP_001269478.1:n.364+11059_364+11060insA
NR_104212.2:n.601_602insA
NR_104215.2:n.544_545insA
NR_104216.2:n.478+11059_478+11060insA