Canonical Allele Identifier: CA913188002

Gene: BARD1

Linked Data

• ClinVar Variation Id: 630637
• ClinVar RCV Id: RCV000776574 ; RCV003336180
• dbSNP Id: rs1559371635

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728743del , CM000664.2:g.214728743del	GRCh38
NC_000002.11:g.215593467del , CM000664.1:g.215593467del	GRCh37
NC_000002.10:g.215301712del	NCBI36
NG_012047.2:g.85963del
NG_012047.3:g.85970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2268del MANE Select	ENSP00000260947.4:p.Trp756Ter
ENST00000421162.2:c.915del	ENSP00000392245.2:p.Trp305Ter
ENST00000613192.2:c.*331del	ENSP00000483275.2:n.*331del
ENST00000613374.5:c.858del	ENSP00000484464.1:p.Trp286Ter
ENST00000613706.5:c.1860del	ENSP00000484976.2:p.Trp620Ter
ENST00000617164.5:c.2211del	ENSP00000480470.1:p.Trp737Ter
ENST00000619009.5:c.729del	ENSP00000482293.1:p.Trp243Ter
ENST00000650978.1:c.3643del
ENST00000260947.8:c.2268del	ENSP00000260947.4:p.Trp756Ter
ENST00000432456.5:c.411del
ENST00000455743.5:c.*1888del	ENSP00000412186.1:n.*1888del
ENST00000471590.5:n.603del
ENST00000613192.1:c.438del	ENSP00000483275.1:p.Trp146Ter
ENST00000613374.4:c.858del	ENSP00000484464.1:p.Trp286Ter
ENST00000613706.4:c.915del	ENSP00000484976.1:p.Trp305Ter
ENST00000617164.4:c.2211del	ENSP00000480470.1:p.Trp737Ter
ENST00000619009.4:c.729del	ENSP00000482293.1:p.Trp243Ter
ENST00000620057.4:c.*934del	ENSP00000481988.1:n.*934del
NM_000465.3:c.2268del	NP_000456.2:p.Trp756Ter
NM_001282543.1:c.2211del	NP_001269472.1:p.Trp737Ter
NM_001282545.1:c.915del	NP_001269474.1:p.Trp305Ter
NM_001282548.1:c.858del	NP_001269477.1:p.Trp286Ter
NM_001282549.1:c.729del	NP_001269478.1:p.Trp243Ter
NR_104212.1:n.2261del
NR_104215.1:n.2204del
NR_104216.1:n.1460del
XM_011511567.1:c.2214del	XP_011509869.1:p.Trp738Ter
XM_017004613.1:c.2367del	XP_016860102.1:p.Trp789Ter
XR_002959322.1:n.2634del
NM_000465.4:c.2268del MANE Select	NP_000456.2:p.Trp756Ter
NM_001282543.2:c.2211del	NP_001269472.1:p.Trp737Ter
NM_001282545.2:c.915del	NP_001269474.1:p.Trp305Ter
NM_001282548.2:c.858del	NP_001269477.1:p.Trp286Ter
NM_001282549.2:c.729del	NP_001269478.1:p.Trp243Ter
NR_104212.2:n.2233del
NR_104215.2:n.2176del
NR_104216.2:n.1432del