Canonical Allele Identifier: CA1327085070
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs1696445348

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214809337del , CM000664.2:g.214809337del GRCh38
NC_000002.11:g.215674061del , CM000664.1:g.215674061del GRCh37
NC_000002.10:g.215382306del NCBI36
NG_012047.2:g.5370del
NG_012047.3:g.5377del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.158+77del MANE Select ENSP00000260947.4:n.158+77del
ENST00000421162.2:c.158+77del ENSP00000392245.2:n.158+77del
ENST00000613192.2:c.158+77del ENSP00000483275.2:n.158+77del
ENST00000613374.5:c.158+77del ENSP00000484464.1:n.158+77del
ENST00000613706.5:c.158+77del ENSP00000484976.2:n.158+77del
ENST00000617164.5:c.158+77del ENSP00000480470.1:n.158+77del
ENST00000619009.5:c.158+77del ENSP00000482293.1:n.158+77del
ENST00000260947.8:c.158+77del ENSP00000260947.4:n.158+77del
ENST00000421162.1:c.158+77del ENSP00000392245.1:n.158+77del
ENST00000455743.5:c.158+77del ENSP00000412186.1:n.158+77del
ENST00000471787.1:n.259+77del
ENST00000479904.1:n.249+77del
ENST00000613192.1:c.73+77del ENSP00000483275.1:n.73+77del
ENST00000613374.4:c.158+77del ENSP00000484464.1:n.158+77del
ENST00000613706.4:c.158+77del ENSP00000484976.1:n.158+77del
ENST00000617164.4:c.158+77del ENSP00000480470.1:n.158+77del
ENST00000619009.4:c.158+77del ENSP00000482293.1:n.158+77del
ENST00000620057.4:c.158+77del ENSP00000481988.1:n.158+77del
NM_000465.3:c.158+77del NP_000456.2:n.158+77del
NM_001282543.1:c.158+77del NP_001269472.1:n.158+77del
NM_001282545.1:c.158+77del NP_001269474.1:n.158+77del
NM_001282548.1:c.158+77del NP_001269477.1:n.158+77del
NM_001282549.1:c.158+77del NP_001269478.1:n.158+77del
NR_104212.1:n.300+77del
NR_104215.1:n.300+77del
NR_104216.1:n.300+77del
XM_011511568.1:c.158+77del XP_011509870.1:n.158+77del
XM_017004613.1:c.158+77del XP_016860102.1:n.158+77del
XM_017004614.1:c.158+77del XP_016860103.1:n.158+77del
XR_002959322.1:n.249+77del
NM_000465.4:c.158+77del MANE Select NP_000456.2:n.158+77del
NM_001282543.2:c.158+77del NP_001269472.1:n.158+77del
NM_001282545.2:c.158+77del NP_001269474.1:n.158+77del
NM_001282548.2:c.158+77del NP_001269477.1:n.158+77del
NM_001282549.2:c.158+77del NP_001269478.1:n.158+77del
NR_104212.2:n.272+77del
NR_104215.2:n.272+77del
NR_104216.2:n.272+77del