Canonical Allele Identifier: CA2701493837
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2106020391

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745689del , CM000664.2:g.214745689del GRCh38
NC_000002.11:g.215610413del , CM000664.1:g.215610413del GRCh37
NC_000002.10:g.215318658del NCBI36
NG_012047.2:g.69021del
NG_012047.3:g.69028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1810+38del MANE Select ENSP00000260947.4:n.1810+38del
ENST00000421162.2:c.457+38del ENSP00000392245.2:n.457+38del
ENST00000613192.2:c.159-15176del ENSP00000483275.2:n.159-15176del
ENST00000613374.5:c.400+38del ENSP00000484464.1:n.400+38del
ENST00000613706.5:c.1402+38del ENSP00000484976.2:n.1402+38del
ENST00000617164.5:c.1753+38del ENSP00000480470.1:n.1753+38del
ENST00000619009.5:c.365-15176del ENSP00000482293.1:n.365-15176del
ENST00000650978.1:c.3185+38del
ENST00000260947.8:c.1810+38del ENSP00000260947.4:n.1810+38del
ENST00000421162.1:c.457+38del ENSP00000392245.1:n.457+38del
ENST00000455743.5:c.*1430+38del ENSP00000412186.1:n.*1430+38del
ENST00000613192.1:c.74-15176del ENSP00000483275.1:n.74-15176del
ENST00000613374.4:c.400+38del ENSP00000484464.1:n.400+38del
ENST00000613706.4:c.457+38del ENSP00000484976.1:n.457+38del
ENST00000617164.4:c.1753+38del ENSP00000480470.1:n.1753+38del
ENST00000619009.4:c.365-15176del ENSP00000482293.1:n.365-15176del
ENST00000620057.4:c.*476+38del ENSP00000481988.1:n.*476+38del
NM_000465.3:c.1810+38del NP_000456.2:n.1810+38del
NM_001282543.1:c.1753+38del NP_001269472.1:n.1753+38del
NM_001282545.1:c.457+38del NP_001269474.1:n.457+38del
NM_001282548.1:c.400+38del NP_001269477.1:n.400+38del
NM_001282549.1:c.365-15176del NP_001269478.1:n.365-15176del
NR_104212.1:n.1803+38del
NR_104215.1:n.1746+38del
NR_104216.1:n.1002+38del
XM_011511567.1:c.1756+38del XP_011509869.1:n.1756+38del
XM_011511568.1:c.1810+38del XP_011509870.1:n.1810+38del
XM_017004613.1:c.1909+38del XP_016860102.1:n.1909+38del
XM_017004614.1:c.1909+38del XP_016860103.1:n.1909+38del
XR_002959322.1:n.2000+38del
NM_000465.4:c.1810+38del MANE Select NP_000456.2:n.1810+38del
NM_001282543.2:c.1753+38del NP_001269472.1:n.1753+38del
NM_001282545.2:c.457+38del NP_001269474.1:n.457+38del
NM_001282548.2:c.400+38del NP_001269477.1:n.400+38del
NM_001282549.2:c.365-15176del NP_001269478.1:n.365-15176del
NR_104212.2:n.1775+38del
NR_104215.2:n.1718+38del
NR_104216.2:n.974+38del