Canonical Allele Identifier: CA2582342066

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583403
• ClinVar RCV Id: RCV003337074

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745749dup , CM000664.2:g.214745749dup	GRCh38
NC_000002.11:g.215610473dup , CM000664.1:g.215610473dup	GRCh37
NC_000002.10:g.215318718dup	NCBI36
NG_012047.2:g.68961dup
NG_012047.3:g.68968dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1788dup MANE Select	ENSP00000260947.4:p.Tyr597IlefsTer3
ENST00000421162.2:c.435dup	ENSP00000392245.2:p.Tyr146IlefsTer3
ENST00000613192.2:c.159-15236dup	ENSP00000483275.2:n.159-15236dup
ENST00000613374.5:c.378dup	ENSP00000484464.1:p.Tyr127IlefsTer3
ENST00000613706.5:c.1380dup	ENSP00000484976.2:p.Tyr461IlefsTer3
ENST00000617164.5:c.1731dup	ENSP00000480470.1:p.Tyr578IlefsTer3
ENST00000619009.5:c.365-15236dup	ENSP00000482293.1:n.365-15236dup
ENST00000650978.1:c.3163dup
ENST00000260947.8:c.1788dup	ENSP00000260947.4:p.Tyr597IlefsTer3
ENST00000421162.1:c.435dup	ENSP00000392245.1:p.Tyr146IlefsTer3
ENST00000455743.5:c.*1408dup	ENSP00000412186.1:n.*1408dup
ENST00000465841.1:n.143dup
ENST00000613192.1:c.74-15236dup	ENSP00000483275.1:n.74-15236dup
ENST00000613374.4:c.378dup	ENSP00000484464.1:p.Tyr127IlefsTer3
ENST00000613706.4:c.435dup	ENSP00000484976.1:p.Tyr146IlefsTer3
ENST00000617164.4:c.1731dup	ENSP00000480470.1:p.Tyr578IlefsTer3
ENST00000619009.4:c.365-15236dup	ENSP00000482293.1:n.365-15236dup
ENST00000620057.4:c.*454dup	ENSP00000481988.1:n.*454dup
NM_000465.3:c.1788dup	NP_000456.2:p.Tyr597IlefsTer3
NM_001282543.1:c.1731dup	NP_001269472.1:p.Tyr578IlefsTer3
NM_001282545.1:c.435dup	NP_001269474.1:p.Tyr146IlefsTer3
NM_001282548.1:c.378dup	NP_001269477.1:p.Tyr127IlefsTer3
NM_001282549.1:c.365-15236dup	NP_001269478.1:n.365-15236dup
NR_104212.1:n.1781dup
NR_104215.1:n.1724dup
NR_104216.1:n.980dup
XM_011511567.1:c.1734dup	XP_011509869.1:p.Tyr579IlefsTer3
XM_011511568.1:c.1788dup	XP_011509870.1:p.Tyr597IlefsTer3
XM_017004613.1:c.1887dup	XP_016860102.1:p.Tyr630IlefsTer3
XM_017004614.1:c.1887dup	XP_016860103.1:p.Tyr630IlefsTer3
XR_002959322.1:n.1978dup
NM_000465.4:c.1788dup MANE Select	NP_000456.2:p.Tyr597IlefsTer3
NM_001282543.2:c.1731dup	NP_001269472.1:p.Tyr578IlefsTer3
NM_001282545.2:c.435dup	NP_001269474.1:p.Tyr146IlefsTer3
NM_001282548.2:c.378dup	NP_001269477.1:p.Tyr127IlefsTer3
NM_001282549.2:c.365-15236dup	NP_001269478.1:n.365-15236dup
NR_104212.2:n.1753dup
NR_104215.2:n.1696dup
NR_104216.2:n.952dup