Canonical Allele Identifier: CA2499215621
Community Standard Title: NM_000465.4(BARD1):c.1357_1358delinsTT (p.Asp453Phe)
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214769269_214769270delinsAA , CM000664.2:g.214769269_214769270delinsAA GRCh38
NC_000002.11:g.215633993_215633994delinsAA , CM000664.1:g.215633993_215633994delinsAA GRCh37
NC_000002.10:g.215342238_215342239delinsAA NCBI36
NG_012047.2:g.45435_45436delinsTT
NG_012047.3:g.45442_45443delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000465.4:c.1357_1358delinsTT MANE Select NP_000456.2:p.Asp453Phe
ENST00000260947.9:c.1357_1358delinsTT MANE Select ENSP00000260947.4:p.Asp453Phe
NM_000465.3:c.1357_1358delinsTT NP_000456.2:p.Asp453Phe
NM_001282543.1:c.1300_1301delinsTT NP_001269472.1:p.Asp434Phe
NM_001282543.2:c.1300_1301delinsTT NP_001269472.1:p.Asp434Phe
NM_001282545.1:c.216-16715_216-16714delinsTT NP_001269474.1:n.216-16715_216-16714delinsTT
NM_001282545.2:c.216-16715_216-16714delinsTT NP_001269474.1:n.216-16715_216-16714delinsTT
NM_001282548.1:c.159-16715_159-16714delinsTT NP_001269477.1:n.159-16715_159-16714delinsTT
NM_001282548.2:c.159-16715_159-16714delinsTT NP_001269477.1:n.159-16715_159-16714delinsTT
NM_001282549.1:c.364+23027_364+23028delinsTT NP_001269478.1:n.364+23027_364+23028delinsTT
NM_001282549.2:c.364+23027_364+23028delinsTT NP_001269478.1:n.364+23027_364+23028delinsTT
NR_104212.1:n.1350_1351delinsTT
NR_104212.2:n.1322_1323delinsTT
NR_104215.1:n.1293_1294delinsTT
NR_104215.2:n.1265_1266delinsTT
NR_104216.1:n.549_550delinsTT
NR_104216.2:n.521_522delinsTT
ENST00000260947.8:c.1357_1358delinsTT ENSP00000260947.4:p.Asp453Phe
ENST00000421162.1:c.216-16715_216-16714delinsTT ENSP00000392245.1:n.216-16715_216-16714delinsTT
ENST00000421162.2:c.216-16715_216-16714delinsTT ENSP00000392245.2:n.216-16715_216-16714delinsTT
ENST00000455743.5:c.*977_*978delinsTT ENSP00000412186.1:n.*977_*978delinsTT
ENST00000613192.1:c.74-38762_74-38761delinsTT ENSP00000483275.1:n.74-38762_74-38761delinsTT
ENST00000613192.2:c.159-38762_159-38761delinsTT ENSP00000483275.2:n.159-38762_159-38761delinsTT
ENST00000613374.4:c.159-16715_159-16714delinsTT ENSP00000484464.1:n.159-16715_159-16714delinsTT
ENST00000613374.5:c.159-16715_159-16714delinsTT ENSP00000484464.1:n.159-16715_159-16714delinsTT
ENST00000613706.4:c.216-16715_216-16714delinsTT ENSP00000484976.1:n.216-16715_216-16714delinsTT
ENST00000613706.5:c.949_950delinsTT ENSP00000484976.2:p.Asp317Phe
ENST00000617164.4:c.1300_1301delinsTT ENSP00000480470.1:p.Asp434Phe
ENST00000617164.5:c.1300_1301delinsTT ENSP00000480470.1:p.Asp434Phe
ENST00000619009.4:c.364+23027_364+23028delinsTT ENSP00000482293.1:n.364+23027_364+23028delinsTT
ENST00000619009.5:c.364+23027_364+23028delinsTT ENSP00000482293.1:n.364+23027_364+23028delinsTT
ENST00000620057.4:c.*23_*24delinsTT ENSP00000481988.1:n.*23_*24delinsTT
ENST00000650978.1:c.2732_2733delinsTT
XM_011511567.1:c.1303_1304delinsTT XP_011509869.1:p.Asp435Phe
XM_011511568.1:c.1357_1358delinsTT XP_011509870.1:p.Asp453Phe
XM_017004613.1:c.1456_1457delinsTT XP_016860102.1:p.Asp486Phe
XM_017004614.1:c.1456_1457delinsTT XP_016860103.1:p.Asp486Phe
XR_002959322.1:n.1547_1548delinsTT