Canonical Allele Identifier: CA1042185722
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1695037642

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781530_214781533del , CM000664.2:g.214781530_214781533del GRCh38
NC_000002.11:g.215646254_215646257del , CM000664.1:g.215646254_215646257del GRCh37
NC_000002.10:g.215354499_215354502del NCBI36
NG_012047.2:g.33175_33178del
NG_012047.3:g.33182_33185del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.365-21_365-18del MANE Select ENSP00000260947.4:n.365-21_365-18del
ENST00000421162.2:c.215+15531_215+15534del ENSP00000392245.2:n.215+15531_215+15534del
ENST00000613192.2:c.158+27882_158+27885del ENSP00000483275.2:n.158+27882_158+27885del
ENST00000613374.5:c.158+27882_158+27885del ENSP00000484464.1:n.158+27882_158+27885del
ENST00000613706.5:c.365-21_365-18del ENSP00000484976.2:n.365-21_365-18del
ENST00000617164.5:c.308-21_308-18del ENSP00000480470.1:n.308-21_308-18del
ENST00000619009.5:c.364+10767_364+10770del ENSP00000482293.1:n.364+10767_364+10770del
ENST00000650978.1:c.207-21_207-18del
ENST00000260947.8:c.365-21_365-18del ENSP00000260947.4:n.365-21_365-18del
ENST00000421162.1:c.215+15531_215+15534del ENSP00000392245.1:n.215+15531_215+15534del
ENST00000455743.5:c.216-21_216-18del ENSP00000412186.1:n.216-21_216-18del
ENST00000471787.1:n.260-21_260-18del
ENST00000613192.1:c.73+27882_73+27885del ENSP00000483275.1:n.73+27882_73+27885del
ENST00000613374.4:c.158+27882_158+27885del ENSP00000484464.1:n.158+27882_158+27885del
ENST00000613706.4:c.215+15531_215+15534del ENSP00000484976.1:n.215+15531_215+15534del
ENST00000617164.4:c.308-21_308-18del ENSP00000480470.1:n.308-21_308-18del
ENST00000619009.4:c.364+10767_364+10770del ENSP00000482293.1:n.364+10767_364+10770del
ENST00000620057.4:c.364+10767_364+10770del ENSP00000481988.1:n.364+10767_364+10770del
NM_000465.3:c.365-21_365-18del NP_000456.2:n.365-21_365-18del
NM_001282543.1:c.308-21_308-18del NP_001269472.1:n.308-21_308-18del
NM_001282545.1:c.215+15531_215+15534del NP_001269474.1:n.215+15531_215+15534del
NM_001282548.1:c.158+27882_158+27885del NP_001269477.1:n.158+27882_158+27885del
NM_001282549.1:c.364+10767_364+10770del NP_001269478.1:n.364+10767_364+10770del
NR_104212.1:n.358-21_358-18del
NR_104215.1:n.301-21_301-18del
NR_104216.1:n.506+10767_506+10770del
XM_011511567.1:c.311-21_311-18del XP_011509869.1:n.311-21_311-18del
XM_011511568.1:c.365-21_365-18del XP_011509870.1:n.365-21_365-18del
XM_017004613.1:c.464-21_464-18del XP_016860102.1:n.464-21_464-18del
XM_017004614.1:c.464-21_464-18del XP_016860103.1:n.464-21_464-18del
XR_002959322.1:n.555-21_555-18del
NM_000465.4:c.365-21_365-18del MANE Select NP_000456.2:n.365-21_365-18del
NM_001282543.2:c.308-21_308-18del NP_001269472.1:n.308-21_308-18del
NM_001282545.2:c.215+15531_215+15534del NP_001269474.1:n.215+15531_215+15534del
NM_001282548.2:c.158+27882_158+27885del NP_001269477.1:n.158+27882_158+27885del
NM_001282549.2:c.364+10767_364+10770del NP_001269478.1:n.364+10767_364+10770del
NR_104212.2:n.330-21_330-18del
NR_104215.2:n.273-21_273-18del
NR_104216.2:n.478+10767_478+10770del