Canonical Allele Identifier: CA1327066294
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1694462904

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214771102_214771103del , CM000664.2:g.214771102_214771103del GRCh38
NC_000002.11:g.215635826_215635827del , CM000664.1:g.215635826_215635827del GRCh37
NC_000002.10:g.215344071_215344072del NCBI36
NG_012047.2:g.43602_43603del
NG_012047.3:g.43609_43610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1315-1791_1315-1790del MANE Select ENSP00000260947.4:n.1315-1791_1315-1790del
ENST00000421162.2:c.216-18548_216-18547del ENSP00000392245.2:n.216-18548_216-18547del
ENST00000613192.2:c.158+38309_158+38310del ENSP00000483275.2:n.158+38309_158+38310del
ENST00000613374.5:c.159-18548_159-18547del ENSP00000484464.1:n.159-18548_159-18547del
ENST00000613706.5:c.907-1791_907-1790del ENSP00000484976.2:n.907-1791_907-1790del
ENST00000617164.5:c.1258-1791_1258-1790del ENSP00000480470.1:n.1258-1791_1258-1790del
ENST00000619009.5:c.364+21194_364+21195del ENSP00000482293.1:n.364+21194_364+21195del
ENST00000650978.1:c.1157-258_1157-257del
ENST00000260947.8:c.1315-1791_1315-1790del ENSP00000260947.4:n.1315-1791_1315-1790del
ENST00000421162.1:c.216-18548_216-18547del ENSP00000392245.1:n.216-18548_216-18547del
ENST00000455743.5:c.*935-1791_*935-1790del ENSP00000412186.1:n.*935-1791_*935-1790del
ENST00000613192.1:c.73+38309_73+38310del ENSP00000483275.1:n.73+38309_73+38310del
ENST00000613374.4:c.159-18548_159-18547del ENSP00000484464.1:n.159-18548_159-18547del
ENST00000613706.4:c.216-18548_216-18547del ENSP00000484976.1:n.216-18548_216-18547del
ENST00000617164.4:c.1258-1791_1258-1790del ENSP00000480470.1:n.1258-1791_1258-1790del
ENST00000619009.4:c.364+21194_364+21195del ENSP00000482293.1:n.364+21194_364+21195del
ENST00000620057.4:c.365-1791_365-1790del ENSP00000481988.1:n.365-1791_365-1790del
NM_000465.3:c.1315-1791_1315-1790del NP_000456.2:n.1315-1791_1315-1790del
NM_001282543.1:c.1258-1791_1258-1790del NP_001269472.1:n.1258-1791_1258-1790del
NM_001282545.1:c.216-18548_216-18547del NP_001269474.1:n.216-18548_216-18547del
NM_001282548.1:c.159-18548_159-18547del NP_001269477.1:n.159-18548_159-18547del
NM_001282549.1:c.364+21194_364+21195del NP_001269478.1:n.364+21194_364+21195del
NR_104212.1:n.1308-1791_1308-1790del
NR_104215.1:n.1251-1791_1251-1790del
NR_104216.1:n.507-1791_507-1790del
XM_011511567.1:c.1261-1791_1261-1790del XP_011509869.1:n.1261-1791_1261-1790del
XM_011511568.1:c.1315-1791_1315-1790del XP_011509870.1:n.1315-1791_1315-1790del
XM_017004613.1:c.1414-1791_1414-1790del XP_016860102.1:n.1414-1791_1414-1790del
XM_017004614.1:c.1414-1791_1414-1790del XP_016860103.1:n.1414-1791_1414-1790del
XR_002959322.1:n.1505-1791_1505-1790del
NM_000465.4:c.1315-1791_1315-1790del MANE Select NP_000456.2:n.1315-1791_1315-1790del
NM_001282543.2:c.1258-1791_1258-1790del NP_001269472.1:n.1258-1791_1258-1790del
NM_001282545.2:c.216-18548_216-18547del NP_001269474.1:n.216-18548_216-18547del
NM_001282548.2:c.159-18548_159-18547del NP_001269477.1:n.159-18548_159-18547del
NM_001282549.2:c.364+21194_364+21195del NP_001269478.1:n.364+21194_364+21195del
NR_104212.2:n.1280-1791_1280-1790del
NR_104215.2:n.1223-1791_1223-1790del
NR_104216.2:n.479-1791_479-1790del