Canonical Allele Identifier: CA1327045501
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728759_214728760delinsGA , CM000664.2:g.214728759_214728760delinsGA GRCh38
NC_000002.11:g.215593483_215593484delinsGA , CM000664.1:g.215593483_215593484delinsGA GRCh37
NC_000002.10:g.215301728_215301729delinsGA NCBI36
NG_012047.2:g.85945_85946delinsTC
NG_012047.3:g.85952_85953delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2250_2251delinsTC MANE Select ENSP00000260947.4:p.Val750=
ENST00000421162.2:c.897_898delinsTC ENSP00000392245.2:p.Val299=
ENST00000613192.2:c.*313_*314delinsTC ENSP00000483275.2:n.*313_*314delinsTC
ENST00000613374.5:c.840_841delinsTC ENSP00000484464.1:p.Val280=
ENST00000613706.5:c.1842_1843delinsTC ENSP00000484976.2:p.Val614=
ENST00000617164.5:c.2193_2194delinsTC ENSP00000480470.1:p.Val731=
ENST00000619009.5:c.711_712delinsTC ENSP00000482293.1:p.Val237=
ENST00000650978.1:c.3625_3626delinsTC
ENST00000260947.8:c.2250_2251delinsTC ENSP00000260947.4:p.Val750=
ENST00000432456.5:c.393_394delinsTC
ENST00000455743.5:c.*1870_*1871delinsTC ENSP00000412186.1:n.*1870_*1871delinsTC
ENST00000471590.5:n.585_586delinsTC
ENST00000613192.1:c.420_421delinsTC ENSP00000483275.1:p.Val140=
ENST00000613374.4:c.840_841delinsTC ENSP00000484464.1:p.Val280=
ENST00000613706.4:c.897_898delinsTC ENSP00000484976.1:p.Val299=
ENST00000617164.4:c.2193_2194delinsTC ENSP00000480470.1:p.Val731=
ENST00000619009.4:c.711_712delinsTC ENSP00000482293.1:p.Val237=
ENST00000620057.4:c.*916_*917delinsTC ENSP00000481988.1:n.*916_*917delinsTC
NM_000465.3:c.2250_2251delinsTC NP_000456.2:p.Val750=
NM_001282543.1:c.2193_2194delinsTC NP_001269472.1:p.Val731=
NM_001282545.1:c.897_898delinsTC NP_001269474.1:p.Val299=
NM_001282548.1:c.840_841delinsTC NP_001269477.1:p.Val280=
NM_001282549.1:c.711_712delinsTC NP_001269478.1:p.Val237=
NR_104212.1:n.2243_2244delinsTC
NR_104215.1:n.2186_2187delinsTC
NR_104216.1:n.1442_1443delinsTC
XM_011511567.1:c.2196_2197delinsTC XP_011509869.1:p.Val732=
XM_017004613.1:c.2349_2350delinsTC XP_016860102.1:p.Val783=
XR_002959322.1:n.2616_2617delinsTC
NM_000465.4:c.2250_2251delinsTC MANE Select NP_000456.2:p.Val750=
NM_001282543.2:c.2193_2194delinsTC NP_001269472.1:p.Val731=
NM_001282545.2:c.897_898delinsTC NP_001269474.1:p.Val299=
NM_001282548.2:c.840_841delinsTC NP_001269477.1:p.Val280=
NM_001282549.2:c.711_712delinsTC NP_001269478.1:p.Val237=
NR_104212.2:n.2215_2216delinsTC
NR_104215.2:n.2158_2159delinsTC
NR_104216.2:n.1414_1415delinsTC