Canonical Allele Identifier: CA913188020
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 628205
ClinVar RCV Id: RCV000772548
dbSNP Id: rs1559374334

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730521_214730522del , CM000664.2:g.214730521_214730522del GRCh38
NC_000002.11:g.215595245_215595246del , CM000664.1:g.215595245_215595246del GRCh37
NC_000002.10:g.215303490_215303491del NCBI36
NG_012047.2:g.84186_84187del
NG_012047.3:g.84193_84194del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1904-11_1904-10del MANE Select ENSP00000260947.4:n.1904-11_1904-10del
ENST00000421162.2:c.551-11_551-10del ENSP00000392245.2:n.551-11_551-10del
ENST00000613192.2:c.159-11_159-10del ENSP00000483275.2:n.159-11_159-10del
ENST00000613374.5:c.494-11_494-10del ENSP00000484464.1:n.494-11_494-10del
ENST00000613706.5:c.1496-11_1496-10del ENSP00000484976.2:n.1496-11_1496-10del
ENST00000617164.5:c.1847-11_1847-10del ENSP00000480470.1:n.1847-11_1847-10del
ENST00000619009.5:c.365-11_365-10del ENSP00000482293.1:n.365-11_365-10del
ENST00000650978.1:c.3279-11_3279-10del
ENST00000260947.8:c.1904-11_1904-10del ENSP00000260947.4:n.1904-11_1904-10del
ENST00000421162.1:c.551-11_551-10del ENSP00000392245.1:n.551-11_551-10del
ENST00000455743.5:c.*1524-11_*1524-10del ENSP00000412186.1:n.*1524-11_*1524-10del
ENST00000471590.5:n.239-11_239-10del
ENST00000613192.1:c.74-11_74-10del ENSP00000483275.1:n.74-11_74-10del
ENST00000613374.4:c.494-11_494-10del ENSP00000484464.1:n.494-11_494-10del
ENST00000613706.4:c.551-11_551-10del ENSP00000484976.1:n.551-11_551-10del
ENST00000617164.4:c.1847-11_1847-10del ENSP00000480470.1:n.1847-11_1847-10del
ENST00000619009.4:c.365-11_365-10del ENSP00000482293.1:n.365-11_365-10del
ENST00000620057.4:c.*570-11_*570-10del ENSP00000481988.1:n.*570-11_*570-10del
NM_000465.3:c.1904-11_1904-10del NP_000456.2:n.1904-11_1904-10del
NM_001282543.1:c.1847-11_1847-10del NP_001269472.1:n.1847-11_1847-10del
NM_001282545.1:c.551-11_551-10del NP_001269474.1:n.551-11_551-10del
NM_001282548.1:c.494-11_494-10del NP_001269477.1:n.494-11_494-10del
NM_001282549.1:c.365-11_365-10del NP_001269478.1:n.365-11_365-10del
NR_104212.1:n.1897-11_1897-10del
NR_104215.1:n.1840-11_1840-10del
NR_104216.1:n.1096-11_1096-10del
XM_011511567.1:c.1850-11_1850-10del XP_011509869.1:n.1850-11_1850-10del
XM_017004613.1:c.2003-11_2003-10del XP_016860102.1:n.2003-11_2003-10del
XR_002959322.1:n.2094-11_2094-10del
NM_000465.4:c.1904-11_1904-10del MANE Select NP_000456.2:n.1904-11_1904-10del
NM_001282543.2:c.1847-11_1847-10del NP_001269472.1:n.1847-11_1847-10del
NM_001282545.2:c.551-11_551-10del NP_001269474.1:n.551-11_551-10del
NM_001282548.2:c.494-11_494-10del NP_001269477.1:n.494-11_494-10del
NM_001282549.2:c.365-11_365-10del NP_001269478.1:n.365-11_365-10del
NR_104212.2:n.1869-11_1869-10del
NR_104215.2:n.1812-11_1812-10del
NR_104216.2:n.1068-11_1068-10del