Canonical Allele Identifier: CA2090124

Gene: BARD1

Linked Data

• dbSNP Id: rs774986157
• ExAC: 2:215595262 T / TAAGTATC
• MyVariant Identifiers: chr2:g.215595262_215595263insAAGTATC (hg19) ; chr2:g.214730538_214730539insAAGTATC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730543_214730549dup , CM000664.2:g.214730543_214730549dup	GRCh38
NC_000002.11:g.215595267_215595273dup , CM000664.1:g.215595267_215595273dup	GRCh37
NC_000002.10:g.215303512_215303518dup	NCBI36
NG_012047.2:g.84160_84166dup
NG_012047.3:g.84167_84173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-37_1904-31dup MANE Select	ENSP00000260947.4:n.1904-37_1904-31dup
ENST00000421162.2:c.551-37_551-31dup	ENSP00000392245.2:n.551-37_551-31dup
ENST00000613192.2:c.159-37_159-31dup	ENSP00000483275.2:n.159-37_159-31dup
ENST00000613374.5:c.494-37_494-31dup	ENSP00000484464.1:n.494-37_494-31dup
ENST00000613706.5:c.1496-37_1496-31dup	ENSP00000484976.2:n.1496-37_1496-31dup
ENST00000617164.5:c.1847-37_1847-31dup	ENSP00000480470.1:n.1847-37_1847-31dup
ENST00000619009.5:c.365-37_365-31dup	ENSP00000482293.1:n.365-37_365-31dup
ENST00000650978.1:c.3279-37_3279-31dup
ENST00000260947.8:c.1904-37_1904-31dup	ENSP00000260947.4:n.1904-37_1904-31dup
ENST00000421162.1:c.551-37_551-31dup	ENSP00000392245.1:n.551-37_551-31dup
ENST00000455743.5:c.*1524-37_*1524-31dup	ENSP00000412186.1:n.*1524-37_*1524-31dup
ENST00000471590.5:n.239-37_239-31dup
ENST00000613192.1:c.74-37_74-31dup	ENSP00000483275.1:n.74-37_74-31dup
ENST00000613374.4:c.494-37_494-31dup	ENSP00000484464.1:n.494-37_494-31dup
ENST00000613706.4:c.551-37_551-31dup	ENSP00000484976.1:n.551-37_551-31dup
ENST00000617164.4:c.1847-37_1847-31dup	ENSP00000480470.1:n.1847-37_1847-31dup
ENST00000619009.4:c.365-37_365-31dup	ENSP00000482293.1:n.365-37_365-31dup
ENST00000620057.4:c.*570-37_*570-31dup	ENSP00000481988.1:n.*570-37_*570-31dup
NM_000465.3:c.1904-37_1904-31dup	NP_000456.2:n.1904-37_1904-31dup
NM_001282543.1:c.1847-37_1847-31dup	NP_001269472.1:n.1847-37_1847-31dup
NM_001282545.1:c.551-37_551-31dup	NP_001269474.1:n.551-37_551-31dup
NM_001282548.1:c.494-37_494-31dup	NP_001269477.1:n.494-37_494-31dup
NM_001282549.1:c.365-37_365-31dup	NP_001269478.1:n.365-37_365-31dup
NR_104212.1:n.1897-37_1897-31dup
NR_104215.1:n.1840-37_1840-31dup
NR_104216.1:n.1096-37_1096-31dup
XM_011511567.1:c.1850-37_1850-31dup	XP_011509869.1:n.1850-37_1850-31dup
XM_017004613.1:c.2003-37_2003-31dup	XP_016860102.1:n.2003-37_2003-31dup
XR_002959322.1:n.2094-37_2094-31dup
NM_000465.4:c.1904-37_1904-31dup MANE Select	NP_000456.2:n.1904-37_1904-31dup
NM_001282543.2:c.1847-37_1847-31dup	NP_001269472.1:n.1847-37_1847-31dup
NM_001282545.2:c.551-37_551-31dup	NP_001269474.1:n.551-37_551-31dup
NM_001282548.2:c.494-37_494-31dup	NP_001269477.1:n.494-37_494-31dup
NM_001282549.2:c.365-37_365-31dup	NP_001269478.1:n.365-37_365-31dup
NR_104212.2:n.1869-37_1869-31dup
NR_104215.2:n.1812-37_1812-31dup
NR_104216.2:n.1068-37_1068-31dup