Canonical Allele Identifier: CA1327076626
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1695550250

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792273_214792276del , CM000664.2:g.214792273_214792276del GRCh38
NC_000002.11:g.215656997_215657000del , CM000664.1:g.215656997_215657000del GRCh37
NC_000002.10:g.215365242_215365245del NCBI36
NG_012047.2:g.22429_22432del
NG_012047.3:g.22436_22439del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.364+21_364+24del MANE Select ENSP00000260947.4:n.364+21_364+24del
ENST00000421162.2:c.215+4785_215+4788del ENSP00000392245.2:n.215+4785_215+4788del
ENST00000613192.2:c.158+17136_158+17139del ENSP00000483275.2:n.158+17136_158+17139de...
ENST00000613374.5:c.158+17136_158+17139del ENSP00000484464.1:n.158+17136_158+17139de...
ENST00000613706.5:c.364+21_364+24del ENSP00000484976.2:n.364+21_364+24del
ENST00000617164.5:c.307+21_307+24del ENSP00000480470.1:n.307+21_307+24del
ENST00000619009.5:c.364+21_364+24del ENSP00000482293.1:n.364+21_364+24del
ENST00000650978.1:c.206+21_206+24del
ENST00000260947.8:c.364+21_364+24del ENSP00000260947.4:n.364+21_364+24del
ENST00000421162.1:c.215+4785_215+4788del ENSP00000392245.1:n.215+4785_215+4788del
ENST00000455743.5:c.215+4785_215+4788del ENSP00000412186.1:n.215+4785_215+4788del
ENST00000471787.1:n.260-10767_260-10764del
ENST00000613192.1:c.73+17136_73+17139del ENSP00000483275.1:n.73+17136_73+17139del
ENST00000613374.4:c.158+17136_158+17139del ENSP00000484464.1:n.158+17136_158+17139de...
ENST00000613706.4:c.215+4785_215+4788del ENSP00000484976.1:n.215+4785_215+4788del
ENST00000617164.4:c.307+21_307+24del ENSP00000480470.1:n.307+21_307+24del
ENST00000619009.4:c.364+21_364+24del ENSP00000482293.1:n.364+21_364+24del
ENST00000620057.4:c.364+21_364+24del ENSP00000481988.1:n.364+21_364+24del
NM_000465.3:c.364+21_364+24del NP_000456.2:n.364+21_364+24del
NM_001282543.1:c.307+21_307+24del NP_001269472.1:n.307+21_307+24del
NM_001282545.1:c.215+4785_215+4788del NP_001269474.1:n.215+4785_215+4788del
NM_001282548.1:c.158+17136_158+17139del NP_001269477.1:n.158+17136_158+17139del
NM_001282549.1:c.364+21_364+24del NP_001269478.1:n.364+21_364+24del
NR_104212.1:n.357+4785_357+4788del
NR_104215.1:n.301-10767_301-10764del
NR_104216.1:n.506+21_506+24del
XM_011511567.1:c.310+21_310+24del XP_011509869.1:n.310+21_310+24del
XM_011511568.1:c.364+21_364+24del XP_011509870.1:n.364+21_364+24del
XM_017004613.1:c.463+21_463+24del XP_016860102.1:n.463+21_463+24del
XM_017004614.1:c.463+21_463+24del XP_016860103.1:n.463+21_463+24del
XR_002959322.1:n.554+21_554+24del
NM_000465.4:c.364+21_364+24del MANE Select NP_000456.2:n.364+21_364+24del
NM_001282543.2:c.307+21_307+24del NP_001269472.1:n.307+21_307+24del
NM_001282545.2:c.215+4785_215+4788del NP_001269474.1:n.215+4785_215+4788del
NM_001282548.2:c.158+17136_158+17139del NP_001269477.1:n.158+17136_158+17139del
NM_001282549.2:c.364+21_364+24del NP_001269478.1:n.364+21_364+24del
NR_104212.2:n.329+4785_329+4788del
NR_104215.2:n.273-10767_273-10764del
NR_104216.2:n.478+21_478+24del