Canonical Allele Identifier: CA2662971130
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730627_214730629del , CM000664.2:g.214730627_214730629del GRCh38
NC_000002.11:g.215595351_215595353del , CM000664.1:g.215595351_215595353del GRCh37
NC_000002.10:g.215303596_215303598del NCBI36
NG_012047.2:g.84080_84082del
NG_012047.3:g.84087_84089del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1904-117_1904-115del MANE Select ENSP00000260947.4:n.1904-117_1904-115del
ENST00000421162.2:c.551-117_551-115del ENSP00000392245.2:n.551-117_551-115del
ENST00000613192.2:c.159-117_159-115del ENSP00000483275.2:n.159-117_159-115del
ENST00000613374.5:c.494-117_494-115del ENSP00000484464.1:n.494-117_494-115del
ENST00000613706.5:c.1496-117_1496-115del ENSP00000484976.2:n.1496-117_1496-115del
ENST00000617164.5:c.1847-117_1847-115del ENSP00000480470.1:n.1847-117_1847-115del
ENST00000619009.5:c.365-117_365-115del ENSP00000482293.1:n.365-117_365-115del
ENST00000650978.1:c.3279-117_3279-115del
ENST00000260947.8:c.1904-117_1904-115del ENSP00000260947.4:n.1904-117_1904-115del
ENST00000421162.1:c.551-117_551-115del ENSP00000392245.1:n.551-117_551-115del
ENST00000455743.5:c.*1524-117_*1524-115del ENSP00000412186.1:n.*1524-117_*1524-115del
ENST00000471590.5:n.239-117_239-115del
ENST00000613192.1:c.74-117_74-115del ENSP00000483275.1:n.74-117_74-115del
ENST00000613374.4:c.494-117_494-115del ENSP00000484464.1:n.494-117_494-115del
ENST00000613706.4:c.551-117_551-115del ENSP00000484976.1:n.551-117_551-115del
ENST00000617164.4:c.1847-117_1847-115del ENSP00000480470.1:n.1847-117_1847-115del
ENST00000619009.4:c.365-117_365-115del ENSP00000482293.1:n.365-117_365-115del
ENST00000620057.4:c.*570-117_*570-115del ENSP00000481988.1:n.*570-117_*570-115del
NM_000465.3:c.1904-117_1904-115del NP_000456.2:n.1904-117_1904-115del
NM_001282543.1:c.1847-117_1847-115del NP_001269472.1:n.1847-117_1847-115del
NM_001282545.1:c.551-117_551-115del NP_001269474.1:n.551-117_551-115del
NM_001282548.1:c.494-117_494-115del NP_001269477.1:n.494-117_494-115del
NM_001282549.1:c.365-117_365-115del NP_001269478.1:n.365-117_365-115del
NR_104212.1:n.1897-117_1897-115del
NR_104215.1:n.1840-117_1840-115del
NR_104216.1:n.1096-117_1096-115del
XM_011511567.1:c.1850-117_1850-115del XP_011509869.1:n.1850-117_1850-115del
XM_017004613.1:c.2003-117_2003-115del XP_016860102.1:n.2003-117_2003-115del
XR_002959322.1:n.2094-117_2094-115del
NM_000465.4:c.1904-117_1904-115del MANE Select NP_000456.2:n.1904-117_1904-115del
NM_001282543.2:c.1847-117_1847-115del NP_001269472.1:n.1847-117_1847-115del
NM_001282545.2:c.551-117_551-115del NP_001269474.1:n.551-117_551-115del
NM_001282548.2:c.494-117_494-115del NP_001269477.1:n.494-117_494-115del
NM_001282549.2:c.365-117_365-115del NP_001269478.1:n.365-117_365-115del
NR_104212.2:n.1869-117_1869-115del
NR_104215.2:n.1812-117_1812-115del
NR_104216.2:n.1068-117_1068-115del