Canonical Allele Identifier: CA3249308676
Community Standard Title: NM_000465.4(BARD1):c.2277_2279del (p.Ser761del)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728732_214728734del , CM000664.2:g.214728732_214728734del GRCh38
NC_000002.11:g.215593456_215593458del , CM000664.1:g.215593456_215593458del GRCh37
NC_000002.10:g.215301701_215301703del NCBI36
NG_012047.2:g.85972_85974del
NG_012047.3:g.85979_85981del

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.2277_2279del MANE Select NP_000456.2:p.Ser760del
ENST00000260947.9:c.2277_2279del MANE Select ENSP00000260947.4:p.Ser760del
NM_000465.3:c.2277_2279del NP_000456.2:p.Ser760del
NM_001282543.1:c.2220_2222del NP_001269472.1:p.Ser741del
NM_001282543.2:c.2220_2222del NP_001269472.1:p.Ser741del
NM_001282545.1:c.924_926del NP_001269474.1:p.Ser309del
NM_001282545.2:c.924_926del NP_001269474.1:p.Ser309del
NM_001282548.1:c.867_869del NP_001269477.1:p.Ser290del
NM_001282548.2:c.867_869del NP_001269477.1:p.Ser290del
NM_001282549.1:c.738_740del NP_001269478.1:p.Ser247del
NM_001282549.2:c.738_740del NP_001269478.1:p.Ser247del
NR_104212.1:n.2270_2272del
NR_104212.2:n.2242_2244del
NR_104215.1:n.2213_2215del
NR_104215.2:n.2185_2187del
NR_104216.1:n.1469_1471del
NR_104216.2:n.1441_1443del
ENST00000260947.8:c.2277_2279del ENSP00000260947.4:p.Ser760del
ENST00000421162.2:c.924_926del ENSP00000392245.2:p.Ser309del
ENST00000432456.5:c.420_422del
ENST00000455743.5:c.*1897_*1899del ENSP00000412186.1:n.*1897_*1899del
ENST00000471590.5:n.612_614del
ENST00000613192.1:c.447_449del ENSP00000483275.1:p.Ser150del
ENST00000613192.2:c.*340_*342del ENSP00000483275.2:n.*340_*342del
ENST00000613374.4:c.867_869del ENSP00000484464.1:p.Ser290del
ENST00000613374.5:c.867_869del ENSP00000484464.1:p.Ser290del
ENST00000613706.4:c.924_926del ENSP00000484976.1:p.Ser309del
ENST00000613706.5:c.1869_1871del ENSP00000484976.2:p.Ser624del
ENST00000617164.4:c.2220_2222del ENSP00000480470.1:p.Ser741del
ENST00000617164.5:c.2220_2222del ENSP00000480470.1:p.Ser741del
ENST00000619009.4:c.738_740del ENSP00000482293.1:p.Ser247del
ENST00000619009.5:c.738_740del ENSP00000482293.1:p.Ser247del
ENST00000620057.4:c.*943_*945del ENSP00000481988.1:n.*943_*945del
ENST00000650978.1:c.3652_3654del
XM_011511567.1:c.2223_2225del XP_011509869.1:p.Ser742del
XM_017004613.1:c.2376_2378del XP_016860102.1:p.Ser793del
XR_002959322.1:n.2643_2645del