Canonical Allele Identifier: CA350449594
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728676T>A , CM000664.2:g.214728676T>A GRCh38
NC_000002.11:g.215593400T>A , CM000664.1:g.215593400T>A GRCh37
NC_000002.10:g.215301645T>A NCBI36
NG_012047.2:g.86029A>T
NG_012047.3:g.86036A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2334A>T MANE Select ENSP00000260947.4:p.Ter778Cys
ENST00000421162.2:c.981A>T ENSP00000392245.2:p.Ter327Cys
ENST00000613192.2:c.*397A>T ENSP00000483275.2:n.*397A>T
ENST00000613374.5:c.924A>T ENSP00000484464.1:p.Ter308Cys
ENST00000613706.5:c.1926A>T ENSP00000484976.2:p.Ter642Cys
ENST00000617164.5:c.2277A>T ENSP00000480470.1:p.Ter759Cys
ENST00000619009.5:c.795A>T ENSP00000482293.1:p.Ter265Cys
ENST00000650978.1:c.3709A>T
ENST00000260947.8:c.2334A>T ENSP00000260947.4:p.Ter778Cys
ENST00000432456.5:c.477A>T
ENST00000471590.5:n.669A>T
ENST00000613192.1:c.504A>T ENSP00000483275.1:p.Ter168Cys
ENST00000613374.4:c.924A>T ENSP00000484464.1:p.Ter308Cys
ENST00000613706.4:c.981A>T ENSP00000484976.1:p.Ter327Cys
ENST00000617164.4:c.2277A>T ENSP00000480470.1:p.Ter759Cys
ENST00000619009.4:c.795A>T ENSP00000482293.1:p.Ter265Cys
NM_000465.3:c.2334A>T NP_000456.2:p.Ter778Cys
NM_001282543.1:c.2277A>T NP_001269472.1:p.Ter759Cys
NM_001282545.1:c.981A>T NP_001269474.1:p.Ter327Cys
NM_001282548.1:c.924A>T NP_001269477.1:p.Ter308Cys
NM_001282549.1:c.795A>T NP_001269478.1:p.Ter265Cys
NR_104212.1:n.2327A>T
NR_104215.1:n.2270A>T
NR_104216.1:n.1526A>T
XM_011511567.1:c.2280A>T XP_011509869.1:p.Ter760Cys
XM_017004613.1:c.2433A>T XP_016860102.1:p.Ter811Cys
XR_002959322.1:n.2700A>T
NM_000465.4:c.2334A>T MANE Select NP_000456.2:p.Ter778Cys
NM_001282543.2:c.2277A>T NP_001269472.1:p.Ter759Cys
NM_001282545.2:c.981A>T NP_001269474.1:p.Ter327Cys
NM_001282548.2:c.924A>T NP_001269477.1:p.Ter308Cys
NM_001282549.2:c.795A>T NP_001269478.1:p.Ter265Cys
NR_104212.2:n.2299A>T
NR_104215.2:n.2242A>T
NR_104216.2:n.1498A>T