Canonical Allele Identifier: CA2499215633

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1067113
• ClinVar RCV Id: RCV001378288
• dbSNP Id: rs2106112761

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781504_214781534del , CM000664.2:g.214781504_214781534del	GRCh38
NC_000002.11:g.215646228_215646258del , CM000664.1:g.215646228_215646258del	GRCh37
NC_000002.10:g.215354473_215354503del	NCBI36
NG_012047.2:g.33172_33202del
NG_012047.3:g.33179_33209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.365-24_371del
ENST00000421162.2:c.215+15528_215+15558del	ENSP00000392245.2:n.215+15528_215+15558del
ENST00000613192.2:c.158+27879_158+27909del	ENSP00000483275.2:n.158+27879_158+27909del
ENST00000613374.5:c.158+27879_158+27909del	ENSP00000484464.1:n.158+27879_158+27909del
ENST00000613706.5:c.365-24_371del
ENST00000617164.5:c.308-24_314del
ENST00000619009.5:c.364+10764_364+10794del	ENSP00000482293.1:n.364+10764_364+10794del
ENST00000650978.1:c.207-24_213del
ENST00000260947.8:c.365-24_371del
ENST00000421162.1:c.215+15528_215+15558del	ENSP00000392245.1:n.215+15528_215+15558del
ENST00000455743.5:c.216-24_222del
ENST00000471787.1:n.260-24_266del
ENST00000613192.1:c.73+27879_73+27909del	ENSP00000483275.1:n.73+27879_73+27909del
ENST00000613374.4:c.158+27879_158+27909del	ENSP00000484464.1:n.158+27879_158+27909del
ENST00000613706.4:c.215+15528_215+15558del	ENSP00000484976.1:n.215+15528_215+15558del
ENST00000617164.4:c.308-24_314del
ENST00000619009.4:c.364+10764_364+10794del	ENSP00000482293.1:n.364+10764_364+10794del
ENST00000620057.4:c.364+10764_364+10794del	ENSP00000481988.1:n.364+10764_364+10794del
NM_000465.3:c.365-24_371del
NM_001282543.1:c.308-24_314del
NM_001282545.1:c.215+15528_215+15558del	NP_001269474.1:n.215+15528_215+15558del
NM_001282548.1:c.158+27879_158+27909del	NP_001269477.1:n.158+27879_158+27909del
NM_001282549.1:c.364+10764_364+10794del	NP_001269478.1:n.364+10764_364+10794del
NR_104212.1:n.358-24_364del
NR_104215.1:n.301-24_307del
NR_104216.1:n.506+10764_506+10794del
XM_011511567.1:c.311-24_317del
XM_011511568.1:c.365-24_371del
XM_017004613.1:c.464-24_470del
XM_017004614.1:c.464-24_470del
XR_002959322.1:n.555-24_561del
NM_000465.4:c.365-24_371del
NM_001282543.2:c.308-24_314del
NM_001282545.2:c.215+15528_215+15558del	NP_001269474.1:n.215+15528_215+15558del
NM_001282548.2:c.158+27879_158+27909del	NP_001269477.1:n.158+27879_158+27909del
NM_001282549.2:c.364+10764_364+10794del	NP_001269478.1:n.364+10764_364+10794del
NR_104212.2:n.330-24_336del
NR_104215.2:n.273-24_279del
NR_104216.2:n.478+10764_478+10794del