Canonical Allele Identifier: CA915941708

Gene: BARD1

Linked Data

• ClinVar Variation Id: 820314
• ClinVar RCV Id: RCV001013642
• dbSNP Id: rs1574706516

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730362_214730481del , CM000664.2:g.214730362_214730481del	GRCh38
NC_000002.11:g.215595086_215595205del , CM000664.1:g.215595086_215595205del	GRCh37
NC_000002.10:g.215303331_215303450del	NCBI36
NG_012047.2:g.84227_84346del
NG_012047.3:g.84234_84353del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1934_2001+52del
ENST00000421162.2:c.581_648+52del
ENST00000613192.2:c.189_*64+52del
ENST00000613374.5:c.524_591+52del
ENST00000613706.5:c.1526_1593+52del
ENST00000617164.5:c.1877_1944+52del
ENST00000619009.5:c.395_462+52del
ENST00000650978.1:c.3309_3376+52del
ENST00000260947.8:c.1934_2001+52del
ENST00000432456.5:c.31_98+52del
ENST00000455743.5:c.*1554_*1621+52del
ENST00000471590.5:n.269_336+52del
ENST00000613192.1:c.104_171+52del
ENST00000613374.4:c.524_591+52del
ENST00000613706.4:c.581_648+52del
ENST00000617164.4:c.1877_1944+52del
ENST00000619009.4:c.395_462+52del
ENST00000620057.4:c.*600_*667+52del
NM_000465.3:c.1934_2001+52del
NM_001282543.1:c.1877_1944+52del
NM_001282545.1:c.581_648+52del
NM_001282548.1:c.524_591+52del
NM_001282549.1:c.395_462+52del
NR_104212.1:n.1927_1994+52del
NR_104215.1:n.1870_1937+52del
NR_104216.1:n.1126_1193+52del
XM_011511567.1:c.1880_1947+52del
XM_017004613.1:c.2033_2100+52del
XR_002959322.1:n.2124_2243del
NM_000465.4:c.1934_2001+52del
NM_001282543.2:c.1877_1944+52del
NM_001282545.2:c.581_648+52del
NM_001282548.2:c.524_591+52del
NM_001282549.2:c.395_462+52del
NR_104212.2:n.1899_1966+52del
NR_104215.2:n.1842_1909+52del
NR_104216.2:n.1098_1165+52del