Canonical Allele Identifier: CA891842520
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571479
ClinVar RCV Id: RCV000692635

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214744329_214745809del , CM000664.2:g.214744329_214745809del GRCh38
NC_000002.11:g.215609053_215610533del , CM000664.1:g.215609053_215610533del GRCh37
NC_000002.10:g.215317298_215318778del NCBI36
NG_012047.2:g.68898_70378del
NG_012047.3:g.68905_70385del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1725_1903+740del
ENST00000421162.2:c.372_550+740del
ENST00000613192.2:c.159-15299_159-13819del ENSP00000483275.2:n.159-15299_159-13819de...
ENST00000613374.5:c.315_493+740del
ENST00000613706.5:c.1317_1495+740del
ENST00000617164.5:c.1668_1846+740del
ENST00000619009.5:c.365-15299_365-13819del ENSP00000482293.1:n.365-15299_365-13819de...
ENST00000650978.1:c.3100_3278+740del
ENST00000260947.8:c.1725_1903+740del
ENST00000421162.1:c.372_550+740del
ENST00000455743.5:c.*1345_*1523+740del
ENST00000613192.1:c.74-15299_74-13819del ENSP00000483275.1:n.74-15299_74-13819del
ENST00000613374.4:c.315_493+740del
ENST00000613706.4:c.372_550+740del
ENST00000617164.4:c.1668_1846+740del
ENST00000619009.4:c.365-15299_365-13819del ENSP00000482293.1:n.365-15299_365-13819de...
ENST00000620057.4:c.*391_*569+740del
NM_000465.3:c.1725_1903+740del
NM_001282543.1:c.1668_1846+740del
NM_001282545.1:c.372_550+740del
NM_001282548.1:c.315_493+740del
NM_001282549.1:c.365-15299_365-13819del NP_001269478.1:n.365-15299_365-13819del
NR_104212.1:n.1718_1896+740del
NR_104215.1:n.1661_1839+740del
NR_104216.1:n.917_1095+740del
XM_011511567.1:c.1671_1849+740del
XM_011511568.1:c.1725_1903+740del
XM_017004613.1:c.1824_2002+740del
XM_017004614.1:c.1824_2002+740del
XR_002959322.1:n.1915_2093+740del
NM_000465.4:c.1725_1903+740del
NM_001282543.2:c.1668_1846+740del
NM_001282545.2:c.372_550+740del
NM_001282548.2:c.315_493+740del
NM_001282549.2:c.365-15299_365-13819del NP_001269478.1:n.365-15299_365-13819del
NR_104212.2:n.1690_1868+740del
NR_104215.2:n.1633_1811+740del
NR_104216.2:n.889_1067+740del