Canonical Allele Identifier: CA1139657666
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951555
ClinVar RCV Id: RCV001223509
dbSNP Id: rs1692152873

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214727995_214728683del , CM000664.2:g.214727995_214728683del GRCh38
NC_000002.11:g.215592719_215593407del , CM000664.1:g.215592719_215593407del GRCh37
NC_000002.10:g.215300964_215301652del NCBI36
NG_012047.2:g.86025_86713del
NG_012047.3:g.86032_86720del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.2330_*684del MANE Select ENSP00000260947.4:n.[c.2330_*684del;Ser77...
ENST00000260947.8:c.2330_*684del ENSP00000260947.4:n.[c.2330_*684del;Ser77...
ENST00000613374.4:c.920_*684del ENSP00000484464.1:n.[c.920_*684del;Ser307...
ENST00000613706.4:c.977_*684del ENSP00000484976.1:n.[c.977_*684del;Ser326...
ENST00000617164.4:c.2273_*684del ENSP00000480470.1:n.[c.2273_*684del;Ser75...
ENST00000619009.4:c.791_*684del ENSP00000482293.1:n.[c.791_*684del;Ser264...
NM_000465.3:c.2330_*684del NP_000456.2:n.[c.2330_*684del;Ser777Ilefs...
NM_001282543.1:c.2273_*684del NP_001269472.1:n.[c.2273_*684del;Ser758Il...
NM_001282545.1:c.977_*684del NP_001269474.1:n.[c.977_*684del;Ser326Ile...
NM_001282548.1:c.920_*684del NP_001269477.1:n.[c.920_*684del;Ser307Ile...
NM_001282549.1:c.791_*684del NP_001269478.1:n.[c.791_*684del;Ser264Ile...
NR_104212.1:n.2323_3011del
NR_104215.1:n.2266_2954del
NR_104216.1:n.1522_2210del
XM_011511567.1:c.2276_*684del XP_011509869.1:n.[c.2276_*684del;Ser759Il...
XM_017004613.1:c.2429_*684del XP_016860102.1:n.[c.2429_*684del;Ser810Il...
NM_000465.4:c.2330_*684del MANE Select NP_000456.2:n.[c.2330_*684del;Ser777Ilefs...
NM_001282543.2:c.2273_*684del NP_001269472.1:n.[c.2273_*684del;Ser758Il...
NM_001282545.2:c.977_*684del NP_001269474.1:n.[c.977_*684del;Ser326Ile...
NM_001282548.2:c.920_*684del NP_001269477.1:n.[c.920_*684del;Ser307Ile...
NM_001282549.2:c.791_*684del NP_001269478.1:n.[c.791_*684del;Ser264Ile...
NR_104212.2:n.2295_2983del
NR_104215.2:n.2238_2926del
NR_104216.2:n.1494_2182del