Canonical Allele Identifier: CA916082282
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 837245
ClinVar RCV Id: RCV001038535
dbSNP Id: rs1693019491

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214744795_214745107del , CM000664.2:g.214744795_214745107del GRCh38
NC_000002.11:g.215609519_215609831del , CM000664.1:g.215609519_215609831del GRCh37
NC_000002.10:g.215317764_215318076del NCBI36
NG_012047.2:g.69600_69912del
NG_012047.3:g.69607_69919del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.1865_1903+274del
ENST00000421162.2:c.512_550+274del
ENST00000613192.2:c.159-14597_159-14285del ENSP00000483275.2:n.159-14597_159-14285de...
ENST00000613374.5:c.455_493+274del
ENST00000613706.5:c.1457_1495+274del
ENST00000617164.5:c.1808_1846+274del
ENST00000619009.5:c.365-14597_365-14285del ENSP00000482293.1:n.365-14597_365-14285de...
ENST00000650978.1:c.3240_3278+274del
ENST00000260947.8:c.1865_1903+274del
ENST00000421162.1:c.512_550+274del
ENST00000455743.5:c.*1485_*1523+274del
ENST00000613192.1:c.74-14597_74-14285del ENSP00000483275.1:n.74-14597_74-14285del
ENST00000613374.4:c.455_493+274del
ENST00000613706.4:c.512_550+274del
ENST00000617164.4:c.1808_1846+274del
ENST00000619009.4:c.365-14597_365-14285del ENSP00000482293.1:n.365-14597_365-14285de...
ENST00000620057.4:c.*531_*569+274del
NM_000465.3:c.1865_1903+274del
NM_001282543.1:c.1808_1846+274del
NM_001282545.1:c.512_550+274del
NM_001282548.1:c.455_493+274del
NM_001282549.1:c.365-14597_365-14285del NP_001269478.1:n.365-14597_365-14285del
NR_104212.1:n.1858_1896+274del
NR_104215.1:n.1801_1839+274del
NR_104216.1:n.1057_1095+274del
XM_011511567.1:c.1811_1849+274del
XM_011511568.1:c.1865_1903+274del
XM_017004613.1:c.1964_2002+274del
XM_017004614.1:c.1964_2002+274del
XR_002959322.1:n.2055_2093+274del
NM_000465.4:c.1865_1903+274del
NM_001282543.2:c.1808_1846+274del
NM_001282545.2:c.512_550+274del
NM_001282548.2:c.455_493+274del
NM_001282549.2:c.365-14597_365-14285del NP_001269478.1:n.365-14597_365-14285del
NR_104212.2:n.1830_1868+274del
NR_104215.2:n.1773_1811+274del
NR_104216.2:n.1029_1067+274del