Canonical Allele Identifier: CA2577234274
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730605_214730607del , CM000664.2:g.214730605_214730607del GRCh38
NC_000002.11:g.215595329_215595331del , CM000664.1:g.215595329_215595331del GRCh37
NC_000002.10:g.215303574_215303576del NCBI36
NG_012047.2:g.84104_84106del
NG_012047.3:g.84111_84113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1904-93_1904-91del MANE Select ENSP00000260947.4:n.1904-93_1904-91del
ENST00000421162.2:c.551-93_551-91del ENSP00000392245.2:n.551-93_551-91del
ENST00000613192.2:c.159-93_159-91del ENSP00000483275.2:n.159-93_159-91del
ENST00000613374.5:c.494-93_494-91del ENSP00000484464.1:n.494-93_494-91del
ENST00000613706.5:c.1496-93_1496-91del ENSP00000484976.2:n.1496-93_1496-91del
ENST00000617164.5:c.1847-93_1847-91del ENSP00000480470.1:n.1847-93_1847-91del
ENST00000619009.5:c.365-93_365-91del ENSP00000482293.1:n.365-93_365-91del
ENST00000650978.1:c.3279-93_3279-91del
ENST00000260947.8:c.1904-93_1904-91del ENSP00000260947.4:n.1904-93_1904-91del
ENST00000421162.1:c.551-93_551-91del ENSP00000392245.1:n.551-93_551-91del
ENST00000455743.5:c.*1524-93_*1524-91del ENSP00000412186.1:n.*1524-93_*1524-91del
ENST00000471590.5:n.239-93_239-91del
ENST00000613192.1:c.74-93_74-91del ENSP00000483275.1:n.74-93_74-91del
ENST00000613374.4:c.494-93_494-91del ENSP00000484464.1:n.494-93_494-91del
ENST00000613706.4:c.551-93_551-91del ENSP00000484976.1:n.551-93_551-91del
ENST00000617164.4:c.1847-93_1847-91del ENSP00000480470.1:n.1847-93_1847-91del
ENST00000619009.4:c.365-93_365-91del ENSP00000482293.1:n.365-93_365-91del
ENST00000620057.4:c.*570-93_*570-91del ENSP00000481988.1:n.*570-93_*570-91del
NM_000465.3:c.1904-93_1904-91del NP_000456.2:n.1904-93_1904-91del
NM_001282543.1:c.1847-93_1847-91del NP_001269472.1:n.1847-93_1847-91del
NM_001282545.1:c.551-93_551-91del NP_001269474.1:n.551-93_551-91del
NM_001282548.1:c.494-93_494-91del NP_001269477.1:n.494-93_494-91del
NM_001282549.1:c.365-93_365-91del NP_001269478.1:n.365-93_365-91del
NR_104212.1:n.1897-93_1897-91del
NR_104215.1:n.1840-93_1840-91del
NR_104216.1:n.1096-93_1096-91del
XM_011511567.1:c.1850-93_1850-91del XP_011509869.1:n.1850-93_1850-91del
XM_017004613.1:c.2003-93_2003-91del XP_016860102.1:n.2003-93_2003-91del
XR_002959322.1:n.2094-93_2094-91del
NM_000465.4:c.1904-93_1904-91del MANE Select NP_000456.2:n.1904-93_1904-91del
NM_001282543.2:c.1847-93_1847-91del NP_001269472.1:n.1847-93_1847-91del
NM_001282545.2:c.551-93_551-91del NP_001269474.1:n.551-93_551-91del
NM_001282548.2:c.494-93_494-91del NP_001269477.1:n.494-93_494-91del
NM_001282549.2:c.365-93_365-91del NP_001269478.1:n.365-93_365-91del
NR_104212.2:n.1869-93_1869-91del
NR_104215.2:n.1812-93_1812-91del
NR_104216.2:n.1068-93_1068-91del