Canonical Allele Identifier: CA3249309955
Community Standard Title: NM_000465.4(BARD1):c.243_245del (p.Gly82del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792416_214792418del , CM000664.2:g.214792416_214792418del GRCh38
NC_000002.11:g.215657140_215657142del , CM000664.1:g.215657140_215657142del GRCh37
NC_000002.10:g.215365385_215365387del NCBI36
NG_012047.2:g.22287_22289del
NG_012047.3:g.22294_22296del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.243_245del MANE Select NP_000456.2:p.Gly82del
ENST00000260947.9:c.243_245del MANE Select ENSP00000260947.4:p.Gly82del
NM_000465.3:c.243_245del NP_000456.2:p.Gly82del
NM_001282543.1:c.186_188del NP_001269472.1:p.Gly63del
NM_001282543.2:c.186_188del NP_001269472.1:p.Gly63del
NM_001282545.1:c.215+4643_215+4645del NP_001269474.1:n.215+4643_215+4645del
NM_001282545.2:c.215+4643_215+4645del NP_001269474.1:n.215+4643_215+4645del
NM_001282548.1:c.158+16994_158+16996del NP_001269477.1:n.158+16994_158+16996del
NM_001282548.2:c.158+16994_158+16996del NP_001269477.1:n.158+16994_158+16996del
NM_001282549.1:c.243_245del NP_001269478.1:p.Gly82del
NM_001282549.2:c.243_245del NP_001269478.1:p.Gly82del
NR_104212.1:n.357+4643_357+4645del
NR_104212.2:n.329+4643_329+4645del
NR_104215.1:n.301-10909_301-10907del
NR_104215.2:n.273-10909_273-10907del
NR_104216.1:n.385_387del
NR_104216.2:n.357_359del
ENST00000260947.8:c.243_245del ENSP00000260947.4:p.Gly82del
ENST00000421162.1:c.215+4643_215+4645del ENSP00000392245.1:n.215+4643_215+4645del
ENST00000421162.2:c.215+4643_215+4645del ENSP00000392245.2:n.215+4643_215+4645del
ENST00000455743.5:c.215+4643_215+4645del ENSP00000412186.1:n.215+4643_215+4645del
ENST00000471787.1:n.260-10909_260-10907del
ENST00000613192.1:c.73+16994_73+16996del ENSP00000483275.1:n.73+16994_73+16996del
ENST00000613192.2:c.158+16994_158+16996del ENSP00000483275.2:n.158+16994_158+16996del
ENST00000613374.4:c.158+16994_158+16996del ENSP00000484464.1:n.158+16994_158+16996del
ENST00000613374.5:c.158+16994_158+16996del ENSP00000484464.1:n.158+16994_158+16996del
ENST00000613706.4:c.215+4643_215+4645del ENSP00000484976.1:n.215+4643_215+4645del
ENST00000613706.5:c.243_245del ENSP00000484976.2:p.Gly82del
ENST00000617164.4:c.186_188del ENSP00000480470.1:p.Gly63del
ENST00000617164.5:c.186_188del ENSP00000480470.1:p.Gly63del
ENST00000619009.4:c.243_245del ENSP00000482293.1:p.Gly82del
ENST00000619009.5:c.243_245del ENSP00000482293.1:p.Gly82del
ENST00000620057.4:c.243_245del ENSP00000481988.1:p.Gly82del
ENST00000650978.1:c.85_87del
XM_011511567.1:c.189_191del XP_011509869.1:p.Gly64del
XM_011511568.1:c.243_245del XP_011509870.1:p.Gly82del
XM_017004613.1:c.342_344del XP_016860102.1:p.Gly115del
XM_017004614.1:c.342_344del XP_016860103.1:p.Gly115del
XR_002959322.1:n.433_435del