Canonical Allele Identifier: CA2577234268
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730578A>C , CM000664.2:g.214730578A>C GRCh38
NC_000002.11:g.215595302A>C , CM000664.1:g.215595302A>C GRCh37
NC_000002.10:g.215303547A>C NCBI36
NG_012047.2:g.84127T>G
NG_012047.3:g.84134T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.1904-70T>G MANE Select ENSP00000260947.4:n.1904-70T>G
ENST00000421162.2:c.551-70T>G ENSP00000392245.2:n.551-70T>G
ENST00000613192.2:c.159-70T>G ENSP00000483275.2:n.159-70T>G
ENST00000613374.5:c.494-70T>G ENSP00000484464.1:n.494-70T>G
ENST00000613706.5:c.1496-70T>G ENSP00000484976.2:n.1496-70T>G
ENST00000617164.5:c.1847-70T>G ENSP00000480470.1:n.1847-70T>G
ENST00000619009.5:c.365-70T>G ENSP00000482293.1:n.365-70T>G
ENST00000650978.1:c.3279-70T>G
ENST00000260947.8:c.1904-70T>G ENSP00000260947.4:n.1904-70T>G
ENST00000421162.1:c.551-70T>G ENSP00000392245.1:n.551-70T>G
ENST00000455743.5:c.*1524-70T>G ENSP00000412186.1:n.*1524-70T>G
ENST00000471590.5:n.239-70T>G
ENST00000613192.1:c.74-70T>G ENSP00000483275.1:n.74-70T>G
ENST00000613374.4:c.494-70T>G ENSP00000484464.1:n.494-70T>G
ENST00000613706.4:c.551-70T>G ENSP00000484976.1:n.551-70T>G
ENST00000617164.4:c.1847-70T>G ENSP00000480470.1:n.1847-70T>G
ENST00000619009.4:c.365-70T>G ENSP00000482293.1:n.365-70T>G
ENST00000620057.4:c.*570-70T>G ENSP00000481988.1:n.*570-70T>G
NM_000465.3:c.1904-70T>G NP_000456.2:n.1904-70T>G
NM_001282543.1:c.1847-70T>G NP_001269472.1:n.1847-70T>G
NM_001282545.1:c.551-70T>G NP_001269474.1:n.551-70T>G
NM_001282548.1:c.494-70T>G NP_001269477.1:n.494-70T>G
NM_001282549.1:c.365-70T>G NP_001269478.1:n.365-70T>G
NR_104212.1:n.1897-70T>G
NR_104215.1:n.1840-70T>G
NR_104216.1:n.1096-70T>G
XM_011511567.1:c.1850-70T>G XP_011509869.1:n.1850-70T>G
XM_017004613.1:c.2003-70T>G XP_016860102.1:n.2003-70T>G
XR_002959322.1:n.2094-70T>G
NM_000465.4:c.1904-70T>G MANE Select NP_000456.2:n.1904-70T>G
NM_001282543.2:c.1847-70T>G NP_001269472.1:n.1847-70T>G
NM_001282545.2:c.551-70T>G NP_001269474.1:n.551-70T>G
NM_001282548.2:c.494-70T>G NP_001269477.1:n.494-70T>G
NM_001282549.2:c.365-70T>G NP_001269478.1:n.365-70T>G
NR_104212.2:n.1869-70T>G
NR_104215.2:n.1812-70T>G
NR_104216.2:n.1068-70T>G