Canonical Allele Identifier: CA1327046381
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730452G= , CM000664.2:g.214730452G= GRCh38
NC_000002.11:g.215595176G= , CM000664.1:g.215595176G= GRCh37
NC_000002.10:g.215303421G= NCBI36
NG_012047.2:g.84253C=
NG_012047.3:g.84260C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1960C= MANE Select ENSP00000260947.4:p.Pro654=
ENST00000421162.2:c.607C= ENSP00000392245.2:p.Pro203=
ENST00000613192.2:c.*23C= ENSP00000483275.2:n.*23C=
ENST00000613374.5:c.550C= ENSP00000484464.1:p.Pro184=
ENST00000613706.5:c.1552C= ENSP00000484976.2:p.Pro518=
ENST00000617164.5:c.1903C= ENSP00000480470.1:p.Pro635=
ENST00000619009.5:c.421C= ENSP00000482293.1:p.Pro141=
ENST00000650978.1:c.3335C=
ENST00000260947.8:c.1960C= ENSP00000260947.4:p.Pro654=
ENST00000421162.1:c.607C= ENSP00000392245.1:p.Pro203=
ENST00000432456.5:c.57C=
ENST00000455743.5:c.*1580C= ENSP00000412186.1:n.*1580C=
ENST00000471590.5:n.295C=
ENST00000613192.1:c.130C= ENSP00000483275.1:p.Pro44=
ENST00000613374.4:c.550C= ENSP00000484464.1:p.Pro184=
ENST00000613706.4:c.607C= ENSP00000484976.1:p.Pro203=
ENST00000617164.4:c.1903C= ENSP00000480470.1:p.Pro635=
ENST00000619009.4:c.421C= ENSP00000482293.1:p.Pro141=
ENST00000620057.4:c.*626C= ENSP00000481988.1:n.*626C=
NM_000465.3:c.1960C= NP_000456.2:p.Pro654=
NM_001282543.1:c.1903C= NP_001269472.1:p.Pro635=
NM_001282545.1:c.607C= NP_001269474.1:p.Pro203=
NM_001282548.1:c.550C= NP_001269477.1:p.Pro184=
NM_001282549.1:c.421C= NP_001269478.1:p.Pro141=
NR_104212.1:n.1953C=
NR_104215.1:n.1896C=
NR_104216.1:n.1152C=
XM_011511567.1:c.1906C= XP_011509869.1:p.Pro636=
XM_017004613.1:c.2059C= XP_016860102.1:p.Pro687=
XR_002959322.1:n.2150C=
NM_000465.4:c.1960C= MANE Select NP_000456.2:p.Pro654=
NM_001282543.2:c.1903C= NP_001269472.1:p.Pro635=
NM_001282545.2:c.607C= NP_001269474.1:p.Pro203=
NM_001282548.2:c.550C= NP_001269477.1:p.Pro184=
NM_001282549.2:c.421C= NP_001269478.1:p.Pro141=
NR_104212.2:n.1925C=
NR_104215.2:n.1868C=
NR_104216.2:n.1124C=