Canonical Allele Identifier: CA3249309978
Community Standard Title: NM_000465.4(BARD1):c.239_241del (p.Gly80_Thr81delinsAla)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792420_214792422del , CM000664.2:g.214792420_214792422del GRCh38
NC_000002.11:g.215657144_215657146del , CM000664.1:g.215657144_215657146del GRCh37
NC_000002.10:g.215365389_215365391del NCBI36
NG_012047.2:g.22283_22285del
NG_012047.3:g.22290_22292del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.239_241del MANE Select NP_000456.2:p.Gly80_Thr81delinsAla
ENST00000260947.9:c.239_241del MANE Select ENSP00000260947.4:p.Gly80_Thr81delinsAla
NM_000465.3:c.239_241del NP_000456.2:p.Gly80_Thr81delinsAla
NM_001282543.1:c.182_184del NP_001269472.1:p.Gly61_Thr62delinsAla
NM_001282543.2:c.182_184del NP_001269472.1:p.Gly61_Thr62delinsAla
NM_001282545.1:c.215+4639_215+4641del NP_001269474.1:n.215+4639_215+4641del
NM_001282545.2:c.215+4639_215+4641del NP_001269474.1:n.215+4639_215+4641del
NM_001282548.1:c.158+16990_158+16992del NP_001269477.1:n.158+16990_158+16992del
NM_001282548.2:c.158+16990_158+16992del NP_001269477.1:n.158+16990_158+16992del
NM_001282549.1:c.239_241del NP_001269478.1:p.Gly80_Thr81delinsAla
NM_001282549.2:c.239_241del NP_001269478.1:p.Gly80_Thr81delinsAla
NR_104212.1:n.357+4639_357+4641del
NR_104212.2:n.329+4639_329+4641del
NR_104215.1:n.301-10913_301-10911del
NR_104215.2:n.273-10913_273-10911del
NR_104216.1:n.381_383del
NR_104216.2:n.353_355del
ENST00000260947.8:c.239_241del ENSP00000260947.4:p.Gly80_Thr81delinsAla
ENST00000421162.1:c.215+4639_215+4641del ENSP00000392245.1:n.215+4639_215+4641del
ENST00000421162.2:c.215+4639_215+4641del ENSP00000392245.2:n.215+4639_215+4641del
ENST00000455743.5:c.215+4639_215+4641del ENSP00000412186.1:n.215+4639_215+4641del
ENST00000471787.1:n.260-10913_260-10911del
ENST00000613192.1:c.73+16990_73+16992del ENSP00000483275.1:n.73+16990_73+16992del
ENST00000613192.2:c.158+16990_158+16992del ENSP00000483275.2:n.158+16990_158+16992del
ENST00000613374.4:c.158+16990_158+16992del ENSP00000484464.1:n.158+16990_158+16992del
ENST00000613374.5:c.158+16990_158+16992del ENSP00000484464.1:n.158+16990_158+16992del
ENST00000613706.4:c.215+4639_215+4641del ENSP00000484976.1:n.215+4639_215+4641del
ENST00000613706.5:c.239_241del ENSP00000484976.2:p.Gly80_Thr81delinsAla
ENST00000617164.4:c.182_184del ENSP00000480470.1:p.Gly61_Thr62delinsAla
ENST00000617164.5:c.182_184del ENSP00000480470.1:p.Gly61_Thr62delinsAla
ENST00000619009.4:c.239_241del ENSP00000482293.1:p.Gly80_Thr81delinsAla
ENST00000619009.5:c.239_241del ENSP00000482293.1:p.Gly80_Thr81delinsAla
ENST00000620057.4:c.239_241del ENSP00000481988.1:p.Gly80_Thr81delinsAla
ENST00000650978.1:c.81_83del
XM_011511567.1:c.185_187del XP_011509869.1:p.Gly62_Thr63delinsAla
XM_011511568.1:c.239_241del XP_011509870.1:p.Gly80_Thr81delinsAla
XM_017004613.1:c.338_340del XP_016860102.1:p.Gly113_Thr114delinsAla
XM_017004614.1:c.338_340del XP_016860103.1:p.Gly113_Thr114delinsAla
XR_002959322.1:n.429_431del