Canonical Allele Identifier: CA195214
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs779427628

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781336_214781337del , CM000664.2:g.214781336_214781337del GRCh38
NC_000002.11:g.215646060_215646061del , CM000664.1:g.215646060_215646061del GRCh37
NC_000002.10:g.215354305_215354306del NCBI36
NG_012047.2:g.33370_33371del
NG_012047.3:g.33377_33378del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.539_540del MANE Select ENSP00000260947.4:p.Tyr180Ter
ENST00000421162.2:c.215+15726_215+15727del ENSP00000392245.2:n.215+15726_215+15727de...
ENST00000613192.2:c.158+28077_158+28078del ENSP00000483275.2:n.158+28077_158+28078de...
ENST00000613374.5:c.158+28077_158+28078del ENSP00000484464.1:n.158+28077_158+28078de...
ENST00000613706.5:c.539_540del ENSP00000484976.2:p.Tyr180Ter
ENST00000617164.5:c.482_483del ENSP00000480470.1:p.Tyr161Ter
ENST00000619009.5:c.364+10962_364+10963del ENSP00000482293.1:n.364+10962_364+10963de...
ENST00000650978.1:c.381_382del
ENST00000260947.8:c.539_540del ENSP00000260947.4:p.Tyr180Ter
ENST00000421162.1:c.215+15726_215+15727del ENSP00000392245.1:n.215+15726_215+15727de...
ENST00000455743.5:c.*159_*160del ENSP00000412186.1:n.*159_*160del
ENST00000471787.1:n.434_435del
ENST00000613192.1:c.73+28077_73+28078del ENSP00000483275.1:n.73+28077_73+28078del
ENST00000613374.4:c.158+28077_158+28078del ENSP00000484464.1:n.158+28077_158+28078de...
ENST00000613706.4:c.215+15726_215+15727del ENSP00000484976.1:n.215+15726_215+15727de...
ENST00000617164.4:c.482_483del ENSP00000480470.1:p.Tyr161Ter
ENST00000619009.4:c.364+10962_364+10963del ENSP00000482293.1:n.364+10962_364+10963de...
ENST00000620057.4:c.364+10962_364+10963del ENSP00000481988.1:n.364+10962_364+10963de...
NM_000465.3:c.539_540del NP_000456.2:p.Tyr180Ter
NM_001282543.1:c.482_483del NP_001269472.1:p.Tyr161Ter
NM_001282545.1:c.215+15726_215+15727del NP_001269474.1:n.215+15726_215+15727del
NM_001282548.1:c.158+28077_158+28078del NP_001269477.1:n.158+28077_158+28078del
NM_001282549.1:c.364+10962_364+10963del NP_001269478.1:n.364+10962_364+10963del
NR_104212.1:n.532_533del
NR_104215.1:n.475_476del
NR_104216.1:n.506+10962_506+10963del
XM_011511567.1:c.485_486del XP_011509869.1:p.Tyr162Ter
XM_011511568.1:c.539_540del XP_011509870.1:p.Tyr180Ter
XM_017004613.1:c.638_639del XP_016860102.1:p.Tyr213Ter
XM_017004614.1:c.638_639del XP_016860103.1:p.Tyr213Ter
XR_002959322.1:n.729_730del
NM_000465.4:c.539_540del MANE Select NP_000456.2:p.Tyr180Ter
NM_001282543.2:c.482_483del NP_001269472.1:p.Tyr161Ter
NM_001282545.2:c.215+15726_215+15727del NP_001269474.1:n.215+15726_215+15727del
NM_001282548.2:c.158+28077_158+28078del NP_001269477.1:n.158+28077_158+28078del
NM_001282549.2:c.364+10962_364+10963del NP_001269478.1:n.364+10962_364+10963del
NR_104212.2:n.504_505del
NR_104215.2:n.447_448del
NR_104216.2:n.478+10962_478+10963del