Canonical Allele Identifier: CA1327057351
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214752467_214752468delinsAG , CM000664.2:g.214752467_214752468delinsAG GRCh38
NC_000002.11:g.215617191_215617192delinsAG , CM000664.1:g.215617191_215617192delinsAG GRCh37
NC_000002.10:g.215325436_215325437delinsAG NCBI36
NG_012047.2:g.62237_62238delinsCT
NG_012047.3:g.62244_62245delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1656_1657delinsCT MANE Select ENSP00000260947.4:p.Ser552=
ENST00000421162.2:c.303_304delinsCT ENSP00000392245.2:p.Ser101=
ENST00000613192.2:c.159-21960_159-21959delinsCT ENSP00000483275.2:n.159-21960_159-21959delinsCT
ENST00000613374.5:c.246_247delinsCT ENSP00000484464.1:p.Ser82=
ENST00000613706.5:c.1248_1249delinsCT ENSP00000484976.2:p.Ser416=
ENST00000617164.5:c.1599_1600delinsCT ENSP00000480470.1:p.Ser533=
ENST00000619009.5:c.365-21960_365-21959delinsCT ENSP00000482293.1:n.365-21960_365-21959delinsCT
ENST00000650978.1:c.3031_3032delinsCT
ENST00000260947.8:c.1656_1657delinsCT ENSP00000260947.4:p.Ser552=
ENST00000421162.1:c.303_304delinsCT ENSP00000392245.1:p.Ser101=
ENST00000455743.5:c.*1276_*1277delinsCT ENSP00000412186.1:n.*1276_*1277delinsCT
ENST00000465841.1:n.11_12delinsCT
ENST00000613192.1:c.74-21960_74-21959delinsCT ENSP00000483275.1:n.74-21960_74-21959delinsCT
ENST00000613374.4:c.246_247delinsCT ENSP00000484464.1:p.Ser82=
ENST00000613706.4:c.303_304delinsCT ENSP00000484976.1:p.Ser101=
ENST00000617164.4:c.1599_1600delinsCT ENSP00000480470.1:p.Ser533=
ENST00000619009.4:c.365-21960_365-21959delinsCT ENSP00000482293.1:n.365-21960_365-21959delinsCT
ENST00000620057.4:c.*322_*323delinsCT ENSP00000481988.1:n.*322_*323delinsCT
NM_000465.3:c.1656_1657delinsCT NP_000456.2:p.Ser552=
NM_001282543.1:c.1599_1600delinsCT NP_001269472.1:p.Ser533=
NM_001282545.1:c.303_304delinsCT NP_001269474.1:p.Ser101=
NM_001282548.1:c.246_247delinsCT NP_001269477.1:p.Ser82=
NM_001282549.1:c.365-21960_365-21959delinsCT NP_001269478.1:n.365-21960_365-21959delinsCT
NR_104212.1:n.1649_1650delinsCT
NR_104215.1:n.1592_1593delinsCT
NR_104216.1:n.848_849delinsCT
XM_011511567.1:c.1602_1603delinsCT XP_011509869.1:p.Ser534=
XM_011511568.1:c.1656_1657delinsCT XP_011509870.1:p.Ser552=
XM_017004613.1:c.1755_1756delinsCT XP_016860102.1:p.Ser585=
XM_017004614.1:c.1755_1756delinsCT XP_016860103.1:p.Ser585=
XR_002959322.1:n.1846_1847delinsCT
NM_000465.4:c.1656_1657delinsCT MANE Select NP_000456.2:p.Ser552=
NM_001282543.2:c.1599_1600delinsCT NP_001269472.1:p.Ser533=
NM_001282545.2:c.303_304delinsCT NP_001269474.1:p.Ser101=
NM_001282548.2:c.246_247delinsCT NP_001269477.1:p.Ser82=
NM_001282549.2:c.365-21960_365-21959delinsCT NP_001269478.1:n.365-21960_365-21959delinsCT
NR_104212.2:n.1621_1622delinsCT
NR_104215.2:n.1564_1565delinsCT
NR_104216.2:n.820_821delinsCT