Canonical Allele Identifier: CA3249309951
Community Standard Title: NM_000465.4(BARD1):c.244_246del (p.Gly82del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792415_214792417del , CM000664.2:g.214792415_214792417del GRCh38
NC_000002.11:g.215657139_215657141del , CM000664.1:g.215657139_215657141del GRCh37
NC_000002.10:g.215365384_215365386del NCBI36
NG_012047.2:g.22288_22290del
NG_012047.3:g.22295_22297del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.244_246del MANE Select NP_000456.2:p.Gly82del
ENST00000260947.9:c.244_246del MANE Select ENSP00000260947.4:p.Gly82del
NM_000465.3:c.244_246del NP_000456.2:p.Gly82del
NM_001282543.1:c.187_189del NP_001269472.1:p.Gly63del
NM_001282543.2:c.187_189del NP_001269472.1:p.Gly63del
NM_001282545.1:c.215+4644_215+4646del NP_001269474.1:n.215+4644_215+4646del
NM_001282545.2:c.215+4644_215+4646del NP_001269474.1:n.215+4644_215+4646del
NM_001282548.1:c.158+16995_158+16997del NP_001269477.1:n.158+16995_158+16997del
NM_001282548.2:c.158+16995_158+16997del NP_001269477.1:n.158+16995_158+16997del
NM_001282549.1:c.244_246del NP_001269478.1:p.Gly82del
NM_001282549.2:c.244_246del NP_001269478.1:p.Gly82del
NR_104212.1:n.357+4644_357+4646del
NR_104212.2:n.329+4644_329+4646del
NR_104215.1:n.301-10908_301-10906del
NR_104215.2:n.273-10908_273-10906del
NR_104216.1:n.386_388del
NR_104216.2:n.358_360del
ENST00000260947.8:c.244_246del ENSP00000260947.4:p.Gly82del
ENST00000421162.1:c.215+4644_215+4646del ENSP00000392245.1:n.215+4644_215+4646del
ENST00000421162.2:c.215+4644_215+4646del ENSP00000392245.2:n.215+4644_215+4646del
ENST00000455743.5:c.215+4644_215+4646del ENSP00000412186.1:n.215+4644_215+4646del
ENST00000471787.1:n.260-10908_260-10906del
ENST00000613192.1:c.73+16995_73+16997del ENSP00000483275.1:n.73+16995_73+16997del
ENST00000613192.2:c.158+16995_158+16997del ENSP00000483275.2:n.158+16995_158+16997del
ENST00000613374.4:c.158+16995_158+16997del ENSP00000484464.1:n.158+16995_158+16997del
ENST00000613374.5:c.158+16995_158+16997del ENSP00000484464.1:n.158+16995_158+16997del
ENST00000613706.4:c.215+4644_215+4646del ENSP00000484976.1:n.215+4644_215+4646del
ENST00000613706.5:c.244_246del ENSP00000484976.2:p.Gly82del
ENST00000617164.4:c.187_189del ENSP00000480470.1:p.Gly63del
ENST00000617164.5:c.187_189del ENSP00000480470.1:p.Gly63del
ENST00000619009.4:c.244_246del ENSP00000482293.1:p.Gly82del
ENST00000619009.5:c.244_246del ENSP00000482293.1:p.Gly82del
ENST00000620057.4:c.244_246del ENSP00000481988.1:p.Gly82del
ENST00000650978.1:c.86_88del
XM_011511567.1:c.190_192del XP_011509869.1:p.Gly64del
XM_011511568.1:c.244_246del XP_011509870.1:p.Gly82del
XM_017004613.1:c.343_345del XP_016860102.1:p.Gly115del
XM_017004614.1:c.343_345del XP_016860103.1:p.Gly115del
XR_002959322.1:n.434_436del