Canonical Allele Identifier: CA916082284

Gene: BARD1

Linked Data

• ClinVar Variation Id: 861379
• ClinVar RCV Id: RCV001067894
• dbSNP Id: rs1693074467

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745739_214745746del , CM000664.2:g.214745739_214745746del	GRCh38
NC_000002.11:g.215610463_215610470del , CM000664.1:g.215610463_215610470del	GRCh37
NC_000002.10:g.215318708_215318715del	NCBI36
NG_012047.2:g.68959_68966del
NG_012047.3:g.68966_68973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1786_1793del MANE Select	ENSP00000260947.4:p.Lys596Ter
ENST00000421162.2:c.433_440del	ENSP00000392245.2:p.Lys145Ter
ENST00000613192.2:c.159-15238_159-15231del	ENSP00000483275.2:n.159-15238_159-15231del
ENST00000613374.5:c.376_383del	ENSP00000484464.1:p.Lys126Ter
ENST00000613706.5:c.1378_1385del	ENSP00000484976.2:p.Lys460Ter
ENST00000617164.5:c.1729_1736del	ENSP00000480470.1:p.Lys577Ter
ENST00000619009.5:c.365-15238_365-15231del	ENSP00000482293.1:n.365-15238_365-15231del
ENST00000650978.1:c.3161_3168del
ENST00000260947.8:c.1786_1793del	ENSP00000260947.4:p.Lys596Ter
ENST00000421162.1:c.433_440del	ENSP00000392245.1:p.Lys145Ter
ENST00000455743.5:c.*1406_*1413del	ENSP00000412186.1:n.*1406_*1413del
ENST00000465841.1:n.141_148del
ENST00000613192.1:c.74-15238_74-15231del	ENSP00000483275.1:n.74-15238_74-15231del
ENST00000613374.4:c.376_383del	ENSP00000484464.1:p.Lys126Ter
ENST00000613706.4:c.433_440del	ENSP00000484976.1:p.Lys145Ter
ENST00000617164.4:c.1729_1736del	ENSP00000480470.1:p.Lys577Ter
ENST00000619009.4:c.365-15238_365-15231del	ENSP00000482293.1:n.365-15238_365-15231del
ENST00000620057.4:c.*452_*459del	ENSP00000481988.1:n.*452_*459del
NM_000465.3:c.1786_1793del	NP_000456.2:p.Lys596Ter
NM_001282543.1:c.1729_1736del	NP_001269472.1:p.Lys577Ter
NM_001282545.1:c.433_440del	NP_001269474.1:p.Lys145Ter
NM_001282548.1:c.376_383del	NP_001269477.1:p.Lys126Ter
NM_001282549.1:c.365-15238_365-15231del	NP_001269478.1:n.365-15238_365-15231del
NR_104212.1:n.1779_1786del
NR_104215.1:n.1722_1729del
NR_104216.1:n.978_985del
XM_011511567.1:c.1732_1739del	XP_011509869.1:p.Lys578Ter
XM_011511568.1:c.1786_1793del	XP_011509870.1:p.Lys596Ter
XM_017004613.1:c.1885_1892del	XP_016860102.1:p.Lys629Ter
XM_017004614.1:c.1885_1892del	XP_016860103.1:p.Lys629Ter
XR_002959322.1:n.1976_1983del
NM_000465.4:c.1786_1793del MANE Select	NP_000456.2:p.Lys596Ter
NM_001282543.2:c.1729_1736del	NP_001269472.1:p.Lys577Ter
NM_001282545.2:c.433_440del	NP_001269474.1:p.Lys145Ter
NM_001282548.2:c.376_383del	NP_001269477.1:p.Lys126Ter
NM_001282549.2:c.365-15238_365-15231del	NP_001269478.1:n.365-15238_365-15231del
NR_104212.2:n.1751_1758del
NR_104215.2:n.1694_1701del
NR_104216.2:n.950_957del