Canonical Allele Identifier: CA1327045511
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728771G= , CM000664.2:g.214728771G= GRCh38
NC_000002.11:g.215593495G= , CM000664.1:g.215593495G= GRCh37
NC_000002.10:g.215301740G= NCBI36
NG_012047.2:g.85934C=
NG_012047.3:g.85941C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2239C= MANE Select ENSP00000260947.4:p.Pro747=
ENST00000421162.2:c.886C= ENSP00000392245.2:p.Pro296=
ENST00000613192.2:c.*302C= ENSP00000483275.2:n.*302C=
ENST00000613374.5:c.829C= ENSP00000484464.1:p.Pro277=
ENST00000613706.5:c.1831C= ENSP00000484976.2:p.Pro611=
ENST00000617164.5:c.2182C= ENSP00000480470.1:p.Pro728=
ENST00000619009.5:c.700C= ENSP00000482293.1:p.Pro234=
ENST00000650978.1:c.3614C=
ENST00000260947.8:c.2239C= ENSP00000260947.4:p.Pro747=
ENST00000432456.5:c.382C=
ENST00000455743.5:c.*1859C= ENSP00000412186.1:n.*1859C=
ENST00000471590.5:n.574C=
ENST00000613192.1:c.409C= ENSP00000483275.1:p.Pro137=
ENST00000613374.4:c.829C= ENSP00000484464.1:p.Pro277=
ENST00000613706.4:c.886C= ENSP00000484976.1:p.Pro296=
ENST00000617164.4:c.2182C= ENSP00000480470.1:p.Pro728=
ENST00000619009.4:c.700C= ENSP00000482293.1:p.Pro234=
ENST00000620057.4:c.*905C= ENSP00000481988.1:n.*905C=
NM_000465.3:c.2239C= NP_000456.2:p.Pro747=
NM_001282543.1:c.2182C= NP_001269472.1:p.Pro728=
NM_001282545.1:c.886C= NP_001269474.1:p.Pro296=
NM_001282548.1:c.829C= NP_001269477.1:p.Pro277=
NM_001282549.1:c.700C= NP_001269478.1:p.Pro234=
NR_104212.1:n.2232C=
NR_104215.1:n.2175C=
NR_104216.1:n.1431C=
XM_011511567.1:c.2185C= XP_011509869.1:p.Pro729=
XM_017004613.1:c.2338C= XP_016860102.1:p.Pro780=
XR_002959322.1:n.2605C=
NM_000465.4:c.2239C= MANE Select NP_000456.2:p.Pro747=
NM_001282543.2:c.2182C= NP_001269472.1:p.Pro728=
NM_001282545.2:c.886C= NP_001269474.1:p.Pro296=
NM_001282548.2:c.829C= NP_001269477.1:p.Pro277=
NM_001282549.2:c.700C= NP_001269478.1:p.Pro234=
NR_104212.2:n.2204C=
NR_104215.2:n.2147C=
NR_104216.2:n.1403C=