Canonical Allele Identifier: CA2697550332

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2774775
• ClinVar RCV Id: RCV003585962

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730440_214730442delinsATGGAC , CM000664.2:g.214730440_214730442delinsATGGAC	GRCh38
NC_000002.11:g.215595164_215595166delinsATGGAC , CM000664.1:g.215595164_215595166delinsATGGAC	GRCh37
NC_000002.10:g.215303409_215303411delinsATGGAC	NCBI36
NG_012047.2:g.84263_84265delinsGTCCAT
NG_012047.3:g.84270_84272delinsGTCCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1970_1972delinsGTCCAT MANE Select	ENSP00000260947.4:p.Pro657_Arg658delinsArgProCys
ENST00000421162.2:c.617_619delinsGTCCAT	ENSP00000392245.2:p.Pro206_Arg207delinsArgProCys
ENST00000613192.2:c.*33_*35delinsGTCCAT	ENSP00000483275.2:n.*33_*35delinsGTCCAT
ENST00000613374.5:c.560_562delinsGTCCAT	ENSP00000484464.1:p.Pro187_Arg188delinsArgProCys
ENST00000613706.5:c.1562_1564delinsGTCCAT	ENSP00000484976.2:p.Pro521_Arg522delinsArgProCys
ENST00000617164.5:c.1913_1915delinsGTCCAT	ENSP00000480470.1:p.Pro638_Arg639delinsArgProCys
ENST00000619009.5:c.431_433delinsGTCCAT	ENSP00000482293.1:p.Pro144_Arg145delinsArgProCys
ENST00000650978.1:c.3345_3347delinsGTCCAT
ENST00000260947.8:c.1970_1972delinsGTCCAT	ENSP00000260947.4:p.Pro657_Arg658delinsArgProCys
ENST00000421162.1:c.617_619delinsGTCCAT	ENSP00000392245.1:p.Pro206_Arg207delinsArgProCys
ENST00000432456.5:c.67_69delinsGTCCAT
ENST00000455743.5:c.*1590_*1592delinsGTCCAT	ENSP00000412186.1:n.*1590_*1592delinsGTCCAT
ENST00000471590.5:n.305_307delinsGTCCAT
ENST00000613192.1:c.140_142delinsGTCCAT	ENSP00000483275.1:p.Pro47_Arg48delinsArgProCys
ENST00000613374.4:c.560_562delinsGTCCAT	ENSP00000484464.1:p.Pro187_Arg188delinsArgProCys
ENST00000613706.4:c.617_619delinsGTCCAT	ENSP00000484976.1:p.Pro206_Arg207delinsArgProCys
ENST00000617164.4:c.1913_1915delinsGTCCAT	ENSP00000480470.1:p.Pro638_Arg639delinsArgProCys
ENST00000619009.4:c.431_433delinsGTCCAT	ENSP00000482293.1:p.Pro144_Arg145delinsArgProCys
ENST00000620057.4:c.*636_*638delinsGTCCAT	ENSP00000481988.1:n.*636_*638delinsGTCCAT
NM_000465.3:c.1970_1972delinsGTCCAT	NP_000456.2:p.Pro657_Arg658delinsArgProCys
NM_001282543.1:c.1913_1915delinsGTCCAT	NP_001269472.1:p.Pro638_Arg639delinsArgProCys
NM_001282545.1:c.617_619delinsGTCCAT	NP_001269474.1:p.Pro206_Arg207delinsArgProCys
NM_001282548.1:c.560_562delinsGTCCAT	NP_001269477.1:p.Pro187_Arg188delinsArgProCys
NM_001282549.1:c.431_433delinsGTCCAT	NP_001269478.1:p.Pro144_Arg145delinsArgProCys
NR_104212.1:n.1963_1965delinsGTCCAT
NR_104215.1:n.1906_1908delinsGTCCAT
NR_104216.1:n.1162_1164delinsGTCCAT
XM_011511567.1:c.1916_1918delinsGTCCAT	XP_011509869.1:p.Pro639_Arg640delinsArgProCys
XM_017004613.1:c.2069_2071delinsGTCCAT	XP_016860102.1:p.Pro690_Arg691delinsArgProCys
XR_002959322.1:n.2160_2162delinsGTCCAT
NM_000465.4:c.1970_1972delinsGTCCAT MANE Select	NP_000456.2:p.Pro657_Arg658delinsArgProCys
NM_001282543.2:c.1913_1915delinsGTCCAT	NP_001269472.1:p.Pro638_Arg639delinsArgProCys
NM_001282545.2:c.617_619delinsGTCCAT	NP_001269474.1:p.Pro206_Arg207delinsArgProCys
NM_001282548.2:c.560_562delinsGTCCAT	NP_001269477.1:p.Pro187_Arg188delinsArgProCys
NM_001282549.2:c.431_433delinsGTCCAT	NP_001269478.1:p.Pro144_Arg145delinsArgProCys
NR_104212.2:n.1935_1937delinsGTCCAT
NR_104215.2:n.1878_1880delinsGTCCAT
NR_104216.2:n.1134_1136delinsGTCCAT