Canonical Allele Identifier: CA2499215608

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1049603
• ClinVar RCV Id: RCV001355935
• dbSNP Id: rs2105990964

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730518_214730520delinsCCC , CM000664.2:g.214730518_214730520delinsCCC	GRCh38
NC_000002.11:g.215595242_215595244delinsCCC , CM000664.1:g.215595242_215595244delinsCCC	GRCh37
NC_000002.10:g.215303487_215303489delinsCCC	NCBI36
NG_012047.2:g.84185_84187delinsGGG
NG_012047.3:g.84192_84194delinsGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-12_1904-10delinsGGG MANE Select	ENSP00000260947.4:n.1904-12_1904-10delinsGGG
ENST00000421162.2:c.551-12_551-10delinsGGG	ENSP00000392245.2:n.551-12_551-10delinsGGG
ENST00000613192.2:c.159-12_159-10delinsGGG	ENSP00000483275.2:n.159-12_159-10delinsGGG
ENST00000613374.5:c.494-12_494-10delinsGGG	ENSP00000484464.1:n.494-12_494-10delinsGGG
ENST00000613706.5:c.1496-12_1496-10delinsGGG	ENSP00000484976.2:n.1496-12_1496-10delinsGGG
ENST00000617164.5:c.1847-12_1847-10delinsGGG	ENSP00000480470.1:n.1847-12_1847-10delinsGGG
ENST00000619009.5:c.365-12_365-10delinsGGG	ENSP00000482293.1:n.365-12_365-10delinsGGG
ENST00000650978.1:c.3279-12_3279-10delinsGGG
ENST00000260947.8:c.1904-12_1904-10delinsGGG	ENSP00000260947.4:n.1904-12_1904-10delinsGGG
ENST00000421162.1:c.551-12_551-10delinsGGG	ENSP00000392245.1:n.551-12_551-10delinsGGG
ENST00000455743.5:c.*1524-12_*1524-10delinsGGG	ENSP00000412186.1:n.*1524-12_*1524-10delinsGGG
ENST00000471590.5:n.239-12_239-10delinsGGG
ENST00000613192.1:c.74-12_74-10delinsGGG	ENSP00000483275.1:n.74-12_74-10delinsGGG
ENST00000613374.4:c.494-12_494-10delinsGGG	ENSP00000484464.1:n.494-12_494-10delinsGGG
ENST00000613706.4:c.551-12_551-10delinsGGG	ENSP00000484976.1:n.551-12_551-10delinsGGG
ENST00000617164.4:c.1847-12_1847-10delinsGGG	ENSP00000480470.1:n.1847-12_1847-10delinsGGG
ENST00000619009.4:c.365-12_365-10delinsGGG	ENSP00000482293.1:n.365-12_365-10delinsGGG
ENST00000620057.4:c.*570-12_*570-10delinsGGG	ENSP00000481988.1:n.*570-12_*570-10delinsGGG
NM_000465.3:c.1904-12_1904-10delinsGGG	NP_000456.2:n.1904-12_1904-10delinsGGG
NM_001282543.1:c.1847-12_1847-10delinsGGG	NP_001269472.1:n.1847-12_1847-10delinsGGG
NM_001282545.1:c.551-12_551-10delinsGGG	NP_001269474.1:n.551-12_551-10delinsGGG
NM_001282548.1:c.494-12_494-10delinsGGG	NP_001269477.1:n.494-12_494-10delinsGGG
NM_001282549.1:c.365-12_365-10delinsGGG	NP_001269478.1:n.365-12_365-10delinsGGG
NR_104212.1:n.1897-12_1897-10delinsGGG
NR_104215.1:n.1840-12_1840-10delinsGGG
NR_104216.1:n.1096-12_1096-10delinsGGG
XM_011511567.1:c.1850-12_1850-10delinsGGG	XP_011509869.1:n.1850-12_1850-10delinsGGG
XM_017004613.1:c.2003-12_2003-10delinsGGG	XP_016860102.1:n.2003-12_2003-10delinsGGG
XR_002959322.1:n.2094-12_2094-10delinsGGG
NM_000465.4:c.1904-12_1904-10delinsGGG MANE Select	NP_000456.2:n.1904-12_1904-10delinsGGG
NM_001282543.2:c.1847-12_1847-10delinsGGG	NP_001269472.1:n.1847-12_1847-10delinsGGG
NM_001282545.2:c.551-12_551-10delinsGGG	NP_001269474.1:n.551-12_551-10delinsGGG
NM_001282548.2:c.494-12_494-10delinsGGG	NP_001269477.1:n.494-12_494-10delinsGGG
NM_001282549.2:c.365-12_365-10delinsGGG	NP_001269478.1:n.365-12_365-10delinsGGG
NR_104212.2:n.1869-12_1869-10delinsGGG
NR_104215.2:n.1812-12_1812-10delinsGGG
NR_104216.2:n.1068-12_1068-10delinsGGG