Canonical Allele Identifier: CA2754204201
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781149_214781151del , CM000664.2:g.214781149_214781151del GRCh38
NC_000002.11:g.215645873_215645875del , CM000664.1:g.215645873_215645875del GRCh37
NC_000002.10:g.215354118_215354120del NCBI36
NG_012047.2:g.33556_33558del
NG_012047.3:g.33563_33565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.725_727del MANE Select ENSP00000260947.4:p.Phe242del
ENST00000421162.2:c.215+15912_215+15914del ENSP00000392245.2:n.215+15912_215+15914del
ENST00000613192.2:c.158+28263_158+28265del ENSP00000483275.2:n.158+28263_158+28265del
ENST00000613374.5:c.158+28263_158+28265del ENSP00000484464.1:n.158+28263_158+28265del
ENST00000613706.5:c.725_727del ENSP00000484976.2:p.Phe242del
ENST00000617164.5:c.668_670del ENSP00000480470.1:p.Phe223del
ENST00000619009.5:c.364+11148_364+11150del ENSP00000482293.1:n.364+11148_364+11150del
ENST00000650978.1:c.567_569del
ENST00000260947.8:c.725_727del ENSP00000260947.4:p.Phe242del
ENST00000421162.1:c.215+15912_215+15914del ENSP00000392245.1:n.215+15912_215+15914del
ENST00000455743.5:c.*345_*347del ENSP00000412186.1:n.*345_*347del
ENST00000471787.1:n.620_622del
ENST00000613192.1:c.73+28263_73+28265del ENSP00000483275.1:n.73+28263_73+28265del
ENST00000613374.4:c.158+28263_158+28265del ENSP00000484464.1:n.158+28263_158+28265del
ENST00000613706.4:c.215+15912_215+15914del ENSP00000484976.1:n.215+15912_215+15914del
ENST00000617164.4:c.668_670del ENSP00000480470.1:p.Phe223del
ENST00000619009.4:c.364+11148_364+11150del ENSP00000482293.1:n.364+11148_364+11150del
ENST00000620057.4:c.364+11148_364+11150del ENSP00000481988.1:n.364+11148_364+11150del
NM_000465.3:c.725_727del NP_000456.2:p.Phe242del
NM_001282543.1:c.668_670del NP_001269472.1:p.Phe223del
NM_001282545.1:c.215+15912_215+15914del NP_001269474.1:n.215+15912_215+15914del
NM_001282548.1:c.158+28263_158+28265del NP_001269477.1:n.158+28263_158+28265del
NM_001282549.1:c.364+11148_364+11150del NP_001269478.1:n.364+11148_364+11150del
NR_104212.1:n.718_720del
NR_104215.1:n.661_663del
NR_104216.1:n.506+11148_506+11150del
XM_011511567.1:c.671_673del XP_011509869.1:p.Phe224del
XM_011511568.1:c.725_727del XP_011509870.1:p.Phe242del
XM_017004613.1:c.824_826del XP_016860102.1:p.Phe275del
XM_017004614.1:c.824_826del XP_016860103.1:p.Phe275del
XR_002959322.1:n.915_917del
NM_000465.4:c.725_727del MANE Select NP_000456.2:p.Phe242del
NM_001282543.2:c.668_670del NP_001269472.1:p.Phe223del
NM_001282545.2:c.215+15912_215+15914del NP_001269474.1:n.215+15912_215+15914del
NM_001282548.2:c.158+28263_158+28265del NP_001269477.1:n.158+28263_158+28265del
NM_001282549.2:c.364+11148_364+11150del NP_001269478.1:n.364+11148_364+11150del
NR_104212.2:n.690_692del
NR_104215.2:n.633_635del
NR_104216.2:n.478+11148_478+11150del