Canonical Allele Identifier: CA1327071244
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781041A= , CM000664.2:g.214781041A= GRCh38
NC_000002.11:g.215645765A= , CM000664.1:g.215645765A= GRCh37
NC_000002.10:g.215354010A= NCBI36
NG_012047.2:g.33664T=
NG_012047.3:g.33671T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.833T= MANE Select ENSP00000260947.4:p.Val278=
ENST00000421162.2:c.215+16020T= ENSP00000392245.2:n.215+16020T=
ENST00000613192.2:c.158+28371T= ENSP00000483275.2:n.158+28371T=
ENST00000613374.5:c.158+28371T= ENSP00000484464.1:n.158+28371T=
ENST00000613706.5:c.833T= ENSP00000484976.2:p.Val278=
ENST00000617164.5:c.776T= ENSP00000480470.1:p.Val259=
ENST00000619009.5:c.364+11256T= ENSP00000482293.1:n.364+11256T=
ENST00000650978.1:c.675T=
ENST00000260947.8:c.833T= ENSP00000260947.4:p.Val278=
ENST00000421162.1:c.215+16020T= ENSP00000392245.1:n.215+16020T=
ENST00000455743.5:c.*453T= ENSP00000412186.1:n.*453T=
ENST00000471787.1:n.728T=
ENST00000613192.1:c.73+28371T= ENSP00000483275.1:n.73+28371T=
ENST00000613374.4:c.158+28371T= ENSP00000484464.1:n.158+28371T=
ENST00000613706.4:c.215+16020T= ENSP00000484976.1:n.215+16020T=
ENST00000617164.4:c.776T= ENSP00000480470.1:p.Val259=
ENST00000619009.4:c.364+11256T= ENSP00000482293.1:n.364+11256T=
ENST00000620057.4:c.364+11256T= ENSP00000481988.1:n.364+11256T=
NM_000465.3:c.833T= NP_000456.2:p.Val278=
NM_001282543.1:c.776T= NP_001269472.1:p.Val259=
NM_001282545.1:c.215+16020T= NP_001269474.1:n.215+16020T=
NM_001282548.1:c.158+28371T= NP_001269477.1:n.158+28371T=
NM_001282549.1:c.364+11256T= NP_001269478.1:n.364+11256T=
NR_104212.1:n.826T=
NR_104215.1:n.769T=
NR_104216.1:n.506+11256T=
XM_011511567.1:c.779T= XP_011509869.1:p.Val260=
XM_011511568.1:c.833T= XP_011509870.1:p.Val278=
XM_017004613.1:c.932T= XP_016860102.1:p.Val311=
XM_017004614.1:c.932T= XP_016860103.1:p.Val311=
XR_002959322.1:n.1023T=
NM_000465.4:c.833T= MANE Select NP_000456.2:p.Val278=
NM_001282543.2:c.776T= NP_001269472.1:p.Val259=
NM_001282545.2:c.215+16020T= NP_001269474.1:n.215+16020T=
NM_001282548.2:c.158+28371T= NP_001269477.1:n.158+28371T=
NM_001282549.2:c.364+11256T= NP_001269478.1:n.364+11256T=
NR_104212.2:n.798T=
NR_104215.2:n.741T=
NR_104216.2:n.478+11256T=