Canonical Allele Identifier: CA1327046477

Gene: BARD1

Linked Data

• dbSNP Id: rs1692314249
• gnomAD v4: 2-214730608-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730608A>G , CM000664.2:g.214730608A>G	GRCh38
NC_000002.11:g.215595332A>G , CM000664.1:g.215595332A>G	GRCh37
NC_000002.10:g.215303577A>G	NCBI36
NG_012047.2:g.84097T>C
NG_012047.3:g.84104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-100T>C MANE Select	ENSP00000260947.4:n.1904-100T>C
ENST00000421162.2:c.551-100T>C	ENSP00000392245.2:n.551-100T>C
ENST00000613192.2:c.159-100T>C	ENSP00000483275.2:n.159-100T>C
ENST00000613374.5:c.494-100T>C	ENSP00000484464.1:n.494-100T>C
ENST00000613706.5:c.1496-100T>C	ENSP00000484976.2:n.1496-100T>C
ENST00000617164.5:c.1847-100T>C	ENSP00000480470.1:n.1847-100T>C
ENST00000619009.5:c.365-100T>C	ENSP00000482293.1:n.365-100T>C
ENST00000650978.1:c.3279-100T>C
ENST00000260947.8:c.1904-100T>C	ENSP00000260947.4:n.1904-100T>C
ENST00000421162.1:c.551-100T>C	ENSP00000392245.1:n.551-100T>C
ENST00000455743.5:c.*1524-100T>C	ENSP00000412186.1:n.*1524-100T>C
ENST00000471590.5:n.239-100T>C
ENST00000613192.1:c.74-100T>C	ENSP00000483275.1:n.74-100T>C
ENST00000613374.4:c.494-100T>C	ENSP00000484464.1:n.494-100T>C
ENST00000613706.4:c.551-100T>C	ENSP00000484976.1:n.551-100T>C
ENST00000617164.4:c.1847-100T>C	ENSP00000480470.1:n.1847-100T>C
ENST00000619009.4:c.365-100T>C	ENSP00000482293.1:n.365-100T>C
ENST00000620057.4:c.*570-100T>C	ENSP00000481988.1:n.*570-100T>C
NM_000465.3:c.1904-100T>C	NP_000456.2:n.1904-100T>C
NM_001282543.1:c.1847-100T>C	NP_001269472.1:n.1847-100T>C
NM_001282545.1:c.551-100T>C	NP_001269474.1:n.551-100T>C
NM_001282548.1:c.494-100T>C	NP_001269477.1:n.494-100T>C
NM_001282549.1:c.365-100T>C	NP_001269478.1:n.365-100T>C
NR_104212.1:n.1897-100T>C
NR_104215.1:n.1840-100T>C
NR_104216.1:n.1096-100T>C
XM_011511567.1:c.1850-100T>C	XP_011509869.1:n.1850-100T>C
XM_017004613.1:c.2003-100T>C	XP_016860102.1:n.2003-100T>C
XR_002959322.1:n.2094-100T>C
NM_000465.4:c.1904-100T>C MANE Select	NP_000456.2:n.1904-100T>C
NM_001282543.2:c.1847-100T>C	NP_001269472.1:n.1847-100T>C
NM_001282545.2:c.551-100T>C	NP_001269474.1:n.551-100T>C
NM_001282548.2:c.494-100T>C	NP_001269477.1:n.494-100T>C
NM_001282549.2:c.365-100T>C	NP_001269478.1:n.365-100T>C
NR_104212.2:n.1869-100T>C
NR_104215.2:n.1812-100T>C
NR_104216.2:n.1068-100T>C