Canonical Allele Identifier: CA11216760
Gene: BARD1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs3768716

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214771070T>C , CM000664.2:g.214771070T>C GRCh38
NC_000002.11:g.215635794T>C , CM000664.1:g.215635794T>C GRCh37
NC_000002.10:g.215344039T>C NCBI36
NG_012047.2:g.43635A>G

Transcript Alleles

HGVS Amino-acid change
NM_000465.3:c.1315-1758A>G VV NP_000456.2:p.=
NM_001282543.1:c.1258-1758A>G VV NP_001269472.1:p.=
NM_001282545.1:c.216-18515A>G VV NP_001269474.1:p.=
NM_001282548.1:c.159-18515A>G VV NP_001269477.1:p.=
NM_001282549.1:c.364+21227A>G VV NP_001269478.1:p.=
NR_104212.1:n.1308-1758A>G
NR_104215.1:n.1251-1758A>G
NR_104216.1:n.507-1758A>G
XM_011511567.1:c.1261-1758A>G XP_011509869.1:p.=
XM_011511568.1:c.1315-1758A>G XP_011509870.1:p.=
XM_017004613.1:c.1414-1758A>G XP_016860102.1:p.=
XM_017004614.1:c.1414-1758A>G XP_016860103.1:p.=
XR_002959322.1:n.1505-1758A>G
NM_000465.4:c.1315-1758A>G VV MANE Preferred NP_000456.2:p.=
ENST00000260947.8:c.1315-1758A>G ENSP00000260947.4:p.=
ENST00000421162.1:c.216-18515A>G ENSP00000392245.1:p.=
ENST00000455743.5:c.*935-1758A>G ENSP00000412186.1:p.=
ENST00000613192.1:c.73+38342A>G ENSP00000483275.1:p.=
ENST00000613374.4:c.159-18515A>G ENSP00000484464.1:p.=
ENST00000613706.4:c.216-18515A>G ENSP00000484976.1:p.=
ENST00000617164.4:c.1258-1758A>G ENSP00000480470.1:p.=
ENST00000619009.4:c.364+21227A>G ENSP00000482293.1:p.=
ENST00000620057.4:c.365-1758A>G ENSP00000481988.1:p.=