Canonical Allele Identifier: CA3249308486
Community Standard Title: NM_000465.4(BARD1):c.361_363del (p.Ser121del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792298_214792300del , CM000664.2:g.214792298_214792300del GRCh38
NC_000002.11:g.215657022_215657024del , CM000664.1:g.215657022_215657024del GRCh37
NC_000002.10:g.215365267_215365269del NCBI36
NG_012047.2:g.22405_22407del
NG_012047.3:g.22412_22414del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.361_363del MANE Select NP_000456.2:p.Ser121del
ENST00000260947.9:c.361_363del MANE Select ENSP00000260947.4:p.Ser121del
NM_000465.3:c.361_363del NP_000456.2:p.Ser121del
NM_001282543.1:c.304_306del NP_001269472.1:p.Ser102del
NM_001282543.2:c.304_306del NP_001269472.1:p.Ser102del
NM_001282545.1:c.215+4761_215+4763del NP_001269474.1:n.215+4761_215+4763del
NM_001282545.2:c.215+4761_215+4763del NP_001269474.1:n.215+4761_215+4763del
NM_001282548.1:c.158+17112_158+17114del NP_001269477.1:n.158+17112_158+17114del
NM_001282548.2:c.158+17112_158+17114del NP_001269477.1:n.158+17112_158+17114del
NM_001282549.1:c.361_363del NP_001269478.1:p.Ser121del
NM_001282549.2:c.361_363del NP_001269478.1:p.Ser121del
NR_104212.1:n.357+4761_357+4763del
NR_104212.2:n.329+4761_329+4763del
NR_104215.1:n.301-10791_301-10789del
NR_104215.2:n.273-10791_273-10789del
NR_104216.1:n.503_505del
NR_104216.2:n.475_477del
ENST00000260947.8:c.361_363del ENSP00000260947.4:p.Ser121del
ENST00000421162.1:c.215+4761_215+4763del ENSP00000392245.1:n.215+4761_215+4763del
ENST00000421162.2:c.215+4761_215+4763del ENSP00000392245.2:n.215+4761_215+4763del
ENST00000455743.5:c.215+4761_215+4763del ENSP00000412186.1:n.215+4761_215+4763del
ENST00000471787.1:n.260-10791_260-10789del
ENST00000613192.1:c.73+17112_73+17114del ENSP00000483275.1:n.73+17112_73+17114del
ENST00000613192.2:c.158+17112_158+17114del ENSP00000483275.2:n.158+17112_158+17114del
ENST00000613374.4:c.158+17112_158+17114del ENSP00000484464.1:n.158+17112_158+17114del
ENST00000613374.5:c.158+17112_158+17114del ENSP00000484464.1:n.158+17112_158+17114del
ENST00000613706.4:c.215+4761_215+4763del ENSP00000484976.1:n.215+4761_215+4763del
ENST00000613706.5:c.361_363del ENSP00000484976.2:p.Ser121del
ENST00000617164.4:c.304_306del ENSP00000480470.1:p.Ser102del
ENST00000617164.5:c.304_306del ENSP00000480470.1:p.Ser102del
ENST00000619009.4:c.361_363del ENSP00000482293.1:p.Ser121del
ENST00000619009.5:c.361_363del ENSP00000482293.1:p.Ser121del
ENST00000620057.4:c.361_363del ENSP00000481988.1:p.Ser121del
ENST00000650978.1:c.203_205del
XM_011511567.1:c.307_309del XP_011509869.1:p.Ser103del
XM_011511568.1:c.361_363del XP_011509870.1:p.Ser121del
XM_017004613.1:c.460_462del XP_016860102.1:p.Ser154del
XM_017004614.1:c.460_462del XP_016860103.1:p.Ser154del
XR_002959322.1:n.551_553del