Canonical Allele Identifier: CA1139655725
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 964741
ClinVar RCV Id: RCV001239023

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781082_214784825del , CM000664.2:g.214781082_214784825del GRCh38
NC_000002.11:g.215645806_215649549del , CM000664.1:g.215645806_215649549del GRCh37
NC_000002.10:g.215354051_215357794del NCBI36
NG_012047.2:g.29881_33624del
NG_012047.3:g.29888_33631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.365-3315_793del
ENST00000421162.2:c.215+12237_215+15980del ENSP00000392245.2:n.215+12237_215+15980del
ENST00000613192.2:c.158+24588_158+28331del ENSP00000483275.2:n.158+24588_158+28331del
ENST00000613374.5:c.158+24588_158+28331del ENSP00000484464.1:n.158+24588_158+28331del
ENST00000613706.5:c.365-3315_793del
ENST00000617164.5:c.308-3315_736del
ENST00000619009.5:c.364+7473_364+11216del ENSP00000482293.1:n.364+7473_364+11216del
ENST00000650978.1:c.207-3315_635del
ENST00000260947.8:c.365-3315_793del
ENST00000421162.1:c.215+12237_215+15980del ENSP00000392245.1:n.215+12237_215+15980del
ENST00000455743.5:c.216-3315_*413del
ENST00000471787.1:n.260-3315_688del
ENST00000613192.1:c.73+24588_73+28331del ENSP00000483275.1:n.73+24588_73+28331del
ENST00000613374.4:c.158+24588_158+28331del ENSP00000484464.1:n.158+24588_158+28331del
ENST00000613706.4:c.215+12237_215+15980del ENSP00000484976.1:n.215+12237_215+15980del
ENST00000617164.4:c.308-3315_736del
ENST00000619009.4:c.364+7473_364+11216del ENSP00000482293.1:n.364+7473_364+11216del
ENST00000620057.4:c.364+7473_364+11216del ENSP00000481988.1:n.364+7473_364+11216del
NM_000465.3:c.365-3315_793del
NM_001282543.1:c.308-3315_736del
NM_001282545.1:c.215+12237_215+15980del NP_001269474.1:n.215+12237_215+15980del
NM_001282548.1:c.158+24588_158+28331del NP_001269477.1:n.158+24588_158+28331del
NM_001282549.1:c.364+7473_364+11216del NP_001269478.1:n.364+7473_364+11216del
NR_104212.1:n.358-3315_786del
NR_104215.1:n.301-3315_729del
NR_104216.1:n.506+7473_506+11216del
XM_011511567.1:c.311-3315_739del
XM_011511568.1:c.365-3315_793del
XM_017004613.1:c.464-3315_892del
XM_017004614.1:c.464-3315_892del
XR_002959322.1:n.555-3315_983del
NM_000465.4:c.365-3315_793del
NM_001282543.2:c.308-3315_736del
NM_001282545.2:c.215+12237_215+15980del NP_001269474.1:n.215+12237_215+15980del
NM_001282548.2:c.158+24588_158+28331del NP_001269477.1:n.158+24588_158+28331del
NM_001282549.2:c.364+7473_364+11216del NP_001269478.1:n.364+7473_364+11216del
NR_104212.2:n.330-3315_758del
NR_104215.2:n.273-3315_701del
NR_104216.2:n.478+7473_478+11216del