Canonical Allele Identifier: CA2582342117

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583359
• ClinVar RCV Id: RCV003337030

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781497_214781506del , CM000664.2:g.214781497_214781506del	GRCh38
NC_000002.11:g.215646221_215646230del , CM000664.1:g.215646221_215646230del	GRCh37
NC_000002.10:g.215354466_215354475del	NCBI36
NG_012047.2:g.33200_33209del
NG_012047.3:g.33207_33216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.369_378del MANE Select	ENSP00000260947.4:p.Lys124AsnfsTer?
ENST00000421162.2:c.215+15556_215+15565del	ENSP00000392245.2:n.215+15556_215+15565del
ENST00000613192.2:c.158+27907_158+27916del	ENSP00000483275.2:n.158+27907_158+27916del
ENST00000613374.5:c.158+27907_158+27916del	ENSP00000484464.1:n.158+27907_158+27916del
ENST00000613706.5:c.369_378del	ENSP00000484976.2:p.Lys124AsnfsTer?
ENST00000617164.5:c.312_321del	ENSP00000480470.1:p.Lys105AsnfsTer?
ENST00000619009.5:c.364+10792_364+10801del	ENSP00000482293.1:n.364+10792_364+10801del
ENST00000650978.1:c.211_220del
ENST00000260947.8:c.369_378del	ENSP00000260947.4:p.Lys124AsnfsTer?
ENST00000421162.1:c.215+15556_215+15565del	ENSP00000392245.1:n.215+15556_215+15565del
ENST00000455743.5:c.220_229del	ENSP00000412186.1:p.Glu74LysfsTer?
ENST00000471787.1:n.264_273del
ENST00000613192.1:c.73+27907_73+27916del	ENSP00000483275.1:n.73+27907_73+27916del
ENST00000613374.4:c.158+27907_158+27916del	ENSP00000484464.1:n.158+27907_158+27916del
ENST00000613706.4:c.215+15556_215+15565del	ENSP00000484976.1:n.215+15556_215+15565del
ENST00000617164.4:c.312_321del	ENSP00000480470.1:p.Lys105AsnfsTer?
ENST00000619009.4:c.364+10792_364+10801del	ENSP00000482293.1:n.364+10792_364+10801del
ENST00000620057.4:c.364+10792_364+10801del	ENSP00000481988.1:n.364+10792_364+10801del
NM_000465.3:c.369_378del	NP_000456.2:p.Lys124AsnfsTer?
NM_001282543.1:c.312_321del	NP_001269472.1:p.Lys105AsnfsTer?
NM_001282545.1:c.215+15556_215+15565del	NP_001269474.1:n.215+15556_215+15565del
NM_001282548.1:c.158+27907_158+27916del	NP_001269477.1:n.158+27907_158+27916del
NM_001282549.1:c.364+10792_364+10801del	NP_001269478.1:n.364+10792_364+10801del
NR_104212.1:n.362_371del
NR_104215.1:n.305_314del
NR_104216.1:n.506+10792_506+10801del
XM_011511567.1:c.315_324del	XP_011509869.1:p.Lys106AsnfsTer?
XM_011511568.1:c.369_378del	XP_011509870.1:p.Lys124AsnfsTer?
XM_017004613.1:c.468_477del	XP_016860102.1:p.Lys157AsnfsTer?
XM_017004614.1:c.468_477del	XP_016860103.1:p.Lys157AsnfsTer?
XR_002959322.1:n.559_568del
NM_000465.4:c.369_378del MANE Select	NP_000456.2:p.Lys124AsnfsTer?
NM_001282543.2:c.312_321del	NP_001269472.1:p.Lys105AsnfsTer?
NM_001282545.2:c.215+15556_215+15565del	NP_001269474.1:n.215+15556_215+15565del
NM_001282548.2:c.158+27907_158+27916del	NP_001269477.1:n.158+27907_158+27916del
NM_001282549.2:c.364+10792_364+10801del	NP_001269478.1:n.364+10792_364+10801del
NR_104212.2:n.334_343del
NR_104215.2:n.277_286del
NR_104216.2:n.478+10792_478+10801del