Canonical Allele Identifier: CA1327066310
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1694464680

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214771140_214771143del , CM000664.2:g.214771140_214771143del GRCh38
NC_000002.11:g.215635864_215635867del , CM000664.1:g.215635864_215635867del GRCh37
NC_000002.10:g.215344109_215344112del NCBI36
NG_012047.2:g.43565_43568del
NG_012047.3:g.43572_43575del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1315-1828_1315-1825del MANE Select ENSP00000260947.4:n.1315-1828_1315-1825del
ENST00000421162.2:c.216-18585_216-18582del ENSP00000392245.2:n.216-18585_216-18582del
ENST00000613192.2:c.158+38272_158+38275del ENSP00000483275.2:n.158+38272_158+38275del
ENST00000613374.5:c.159-18585_159-18582del ENSP00000484464.1:n.159-18585_159-18582del
ENST00000613706.5:c.907-1828_907-1825del ENSP00000484976.2:n.907-1828_907-1825del
ENST00000617164.5:c.1258-1828_1258-1825del ENSP00000480470.1:n.1258-1828_1258-1825del
ENST00000619009.5:c.364+21157_364+21160del ENSP00000482293.1:n.364+21157_364+21160del
ENST00000650978.1:c.1157-295_1157-292del
ENST00000260947.8:c.1315-1828_1315-1825del ENSP00000260947.4:n.1315-1828_1315-1825del
ENST00000421162.1:c.216-18585_216-18582del ENSP00000392245.1:n.216-18585_216-18582del
ENST00000455743.5:c.*935-1828_*935-1825del ENSP00000412186.1:n.*935-1828_*935-1825del
ENST00000613192.1:c.73+38272_73+38275del ENSP00000483275.1:n.73+38272_73+38275del
ENST00000613374.4:c.159-18585_159-18582del ENSP00000484464.1:n.159-18585_159-18582del
ENST00000613706.4:c.216-18585_216-18582del ENSP00000484976.1:n.216-18585_216-18582del
ENST00000617164.4:c.1258-1828_1258-1825del ENSP00000480470.1:n.1258-1828_1258-1825del
ENST00000619009.4:c.364+21157_364+21160del ENSP00000482293.1:n.364+21157_364+21160del
ENST00000620057.4:c.365-1828_365-1825del ENSP00000481988.1:n.365-1828_365-1825del
NM_000465.3:c.1315-1828_1315-1825del NP_000456.2:n.1315-1828_1315-1825del
NM_001282543.1:c.1258-1828_1258-1825del NP_001269472.1:n.1258-1828_1258-1825del
NM_001282545.1:c.216-18585_216-18582del NP_001269474.1:n.216-18585_216-18582del
NM_001282548.1:c.159-18585_159-18582del NP_001269477.1:n.159-18585_159-18582del
NM_001282549.1:c.364+21157_364+21160del NP_001269478.1:n.364+21157_364+21160del
NR_104212.1:n.1308-1828_1308-1825del
NR_104215.1:n.1251-1828_1251-1825del
NR_104216.1:n.507-1828_507-1825del
XM_011511567.1:c.1261-1828_1261-1825del XP_011509869.1:n.1261-1828_1261-1825del
XM_011511568.1:c.1315-1828_1315-1825del XP_011509870.1:n.1315-1828_1315-1825del
XM_017004613.1:c.1414-1828_1414-1825del XP_016860102.1:n.1414-1828_1414-1825del
XM_017004614.1:c.1414-1828_1414-1825del XP_016860103.1:n.1414-1828_1414-1825del
XR_002959322.1:n.1505-1828_1505-1825del
NM_000465.4:c.1315-1828_1315-1825del MANE Select NP_000456.2:n.1315-1828_1315-1825del
NM_001282543.2:c.1258-1828_1258-1825del NP_001269472.1:n.1258-1828_1258-1825del
NM_001282545.2:c.216-18585_216-18582del NP_001269474.1:n.216-18585_216-18582del
NM_001282548.2:c.159-18585_159-18582del NP_001269477.1:n.159-18585_159-18582del
NM_001282549.2:c.364+21157_364+21160del NP_001269478.1:n.364+21157_364+21160del
NR_104212.2:n.1280-1828_1280-1825del
NR_104215.2:n.1223-1828_1223-1825del
NR_104216.2:n.479-1828_479-1825del