Canonical Allele Identifier: CA2580065723

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1734757
• ClinVar RCV Id: RCV002351078

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781496_214781497delinsTC , CM000664.2:g.214781496_214781497delinsTC	GRCh38
NC_000002.11:g.215646220_215646221delinsTC , CM000664.1:g.215646220_215646221delinsTC	GRCh37
NC_000002.10:g.215354465_215354466delinsTC	NCBI36
NG_012047.2:g.33208_33209delinsGA
NG_012047.3:g.33215_33216delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.377_378delinsGA MANE Select	ENSP00000260947.4:p.Asp126Gly
ENST00000421162.2:c.215+15564_215+15565delinsGA	ENSP00000392245.2:n.215+15564_215+15565delinsGA
ENST00000613192.2:c.158+27915_158+27916delinsGA	ENSP00000483275.2:n.158+27915_158+27916delinsGA
ENST00000613374.5:c.158+27915_158+27916delinsGA	ENSP00000484464.1:n.158+27915_158+27916delinsGA
ENST00000613706.5:c.377_378delinsGA	ENSP00000484976.2:p.Asp126Gly
ENST00000617164.5:c.320_321delinsGA	ENSP00000480470.1:p.Asp107Gly
ENST00000619009.5:c.364+10800_364+10801delinsGA	ENSP00000482293.1:n.364+10800_364+10801delinsGA
ENST00000650978.1:c.219_220delinsGA
ENST00000260947.8:c.377_378delinsGA	ENSP00000260947.4:p.Asp126Gly
ENST00000421162.1:c.215+15564_215+15565delinsGA	ENSP00000392245.1:n.215+15564_215+15565delinsGA
ENST00000455743.5:c.228_229delinsGA	ENSP00000412186.1:p.Ter77Lys
ENST00000471787.1:n.272_273delinsGA
ENST00000613192.1:c.73+27915_73+27916delinsGA	ENSP00000483275.1:n.73+27915_73+27916delinsGA
ENST00000613374.4:c.158+27915_158+27916delinsGA	ENSP00000484464.1:n.158+27915_158+27916delinsGA
ENST00000613706.4:c.215+15564_215+15565delinsGA	ENSP00000484976.1:n.215+15564_215+15565delinsGA
ENST00000617164.4:c.320_321delinsGA	ENSP00000480470.1:p.Asp107Gly
ENST00000619009.4:c.364+10800_364+10801delinsGA	ENSP00000482293.1:n.364+10800_364+10801delinsGA
ENST00000620057.4:c.364+10800_364+10801delinsGA	ENSP00000481988.1:n.364+10800_364+10801delinsGA
NM_000465.3:c.377_378delinsGA	NP_000456.2:p.Asp126Gly
NM_001282543.1:c.320_321delinsGA	NP_001269472.1:p.Asp107Gly
NM_001282545.1:c.215+15564_215+15565delinsGA	NP_001269474.1:n.215+15564_215+15565delinsGA
NM_001282548.1:c.158+27915_158+27916delinsGA	NP_001269477.1:n.158+27915_158+27916delinsGA
NM_001282549.1:c.364+10800_364+10801delinsGA	NP_001269478.1:n.364+10800_364+10801delinsGA
NR_104212.1:n.370_371delinsGA
NR_104215.1:n.313_314delinsGA
NR_104216.1:n.506+10800_506+10801delinsGA
XM_011511567.1:c.323_324delinsGA	XP_011509869.1:p.Asp108Gly
XM_011511568.1:c.377_378delinsGA	XP_011509870.1:p.Asp126Gly
XM_017004613.1:c.476_477delinsGA	XP_016860102.1:p.Asp159Gly
XM_017004614.1:c.476_477delinsGA	XP_016860103.1:p.Asp159Gly
XR_002959322.1:n.567_568delinsGA
NM_000465.4:c.377_378delinsGA MANE Select	NP_000456.2:p.Asp126Gly
NM_001282543.2:c.320_321delinsGA	NP_001269472.1:p.Asp107Gly
NM_001282545.2:c.215+15564_215+15565delinsGA	NP_001269474.1:n.215+15564_215+15565delinsGA
NM_001282548.2:c.158+27915_158+27916delinsGA	NP_001269477.1:n.158+27915_158+27916delinsGA
NM_001282549.2:c.364+10800_364+10801delinsGA	NP_001269478.1:n.364+10800_364+10801delinsGA
NR_104212.2:n.342_343delinsGA
NR_104215.2:n.285_286delinsGA
NR_104216.2:n.478+10800_478+10801delinsGA