Canonical Allele Identifier: CA2580618118
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2581029
ClinVar RCV Id: RCV003330264

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214745062_214745859del , CM000664.2:g.214745062_214745859del GRCh38
NC_000002.11:g.215609786_215610583del , CM000664.1:g.215609786_215610583del GRCh37
NC_000002.10:g.215318031_215318828del NCBI36
NG_012047.2:g.68846_69643del
NG_012047.3:g.68853_69650del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1678-5_1903+5del
ENST00000421162.2:c.325-5_550+5del
ENST00000613192.2:c.159-15351_159-14554del ENSP00000483275.2:n.159-15351_159-14554de...
ENST00000613374.5:c.268-5_493+5del
ENST00000613706.5:c.1270-5_1495+5del
ENST00000617164.5:c.1621-5_1846+5del
ENST00000619009.5:c.365-15351_365-14554del ENSP00000482293.1:n.365-15351_365-14554de...
ENST00000650978.1:c.3053-5_3278+5del
ENST00000260947.8:c.1678-5_1903+5del
ENST00000421162.1:c.325-5_550+5del
ENST00000455743.5:c.*1298-5_*1523+5del
ENST00000613192.1:c.74-15351_74-14554del ENSP00000483275.1:n.74-15351_74-14554del
ENST00000613374.4:c.268-5_493+5del
ENST00000613706.4:c.325-5_550+5del
ENST00000617164.4:c.1621-5_1846+5del
ENST00000619009.4:c.365-15351_365-14554del ENSP00000482293.1:n.365-15351_365-14554de...
ENST00000620057.4:c.*344-5_*569+5del
NM_000465.3:c.1678-5_1903+5del
NM_001282543.1:c.1621-5_1846+5del
NM_001282545.1:c.325-5_550+5del
NM_001282548.1:c.268-5_493+5del
NM_001282549.1:c.365-15351_365-14554del NP_001269478.1:n.365-15351_365-14554del
NR_104212.1:n.1671-5_1896+5del
NR_104215.1:n.1614-5_1839+5del
NR_104216.1:n.870-5_1095+5del
XM_011511567.1:c.1624-5_1849+5del
XM_011511568.1:c.1678-5_1903+5del
XM_017004613.1:c.1777-5_2002+5del
XM_017004614.1:c.1777-5_2002+5del
XR_002959322.1:n.1868-5_2093+5del
NM_000465.4:c.1678-5_1903+5del
NM_001282543.2:c.1621-5_1846+5del
NM_001282545.2:c.325-5_550+5del
NM_001282548.2:c.268-5_493+5del
NM_001282549.2:c.365-15351_365-14554del NP_001269478.1:n.365-15351_365-14554del
NR_104212.2:n.1643-5_1868+5del
NR_104215.2:n.1586-5_1811+5del
NR_104216.2:n.842-5_1067+5del