Canonical Allele Identifier: CA913188058

Gene: BARD1

Linked Data

• ClinVar Variation Id: 926715
• ClinVar RCV Id: RCV001189519 ; RCV001862998
• dbSNP Id: rs1696452439

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809414del , CM000664.2:g.214809414del	GRCh38
NC_000002.11:g.215674138del , CM000664.1:g.215674138del	GRCh37
NC_000002.10:g.215382383del	NCBI36
NG_012047.2:g.5292del
NG_012047.3:g.5299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.157del MANE Select	ENSP00000260947.4:p.Cys53ValfsTer5
ENST00000421162.2:c.157del	ENSP00000392245.2:p.Cys53ValfsTer5
ENST00000613192.2:c.157del	ENSP00000483275.2:p.Trp53GlyfsTer?
ENST00000613374.5:c.157del	ENSP00000484464.1:p.Cys53ValfsTer17
ENST00000613706.5:c.157del	ENSP00000484976.2:p.Cys53ValfsTer5
ENST00000617164.5:c.157del	ENSP00000480470.1:p.Cys53ValfsTer4
ENST00000619009.5:c.157del	ENSP00000482293.1:p.Cys53ValfsTer5
ENST00000260947.8:c.157del	ENSP00000260947.4:p.Cys53ValfsTer5
ENST00000421162.1:c.157del	ENSP00000392245.1:p.Cys53ValfsTer5
ENST00000455743.5:c.157del	ENSP00000412186.1:p.Cys53ValfsTer5
ENST00000471787.1:n.258del
ENST00000479904.1:n.248del
ENST00000613192.1:c.72del	ENSP00000483275.1:p.Val26Ter
ENST00000613374.4:c.157del	ENSP00000484464.1:p.Cys53ValfsTer17
ENST00000613706.4:c.157del	ENSP00000484976.1:p.Cys53ValfsTer5
ENST00000617164.4:c.157del	ENSP00000480470.1:p.Cys53ValfsTer4
ENST00000619009.4:c.157del	ENSP00000482293.1:p.Cys53ValfsTer5
ENST00000620057.4:c.157del	ENSP00000481988.1:p.Cys53ValfsTer5
NM_000465.3:c.157del	NP_000456.2:p.Cys53ValfsTer5
NM_001282543.1:c.157del	NP_001269472.1:p.Cys53ValfsTer4
NM_001282545.1:c.157del	NP_001269474.1:p.Cys53ValfsTer5
NM_001282548.1:c.157del	NP_001269477.1:p.Cys53ValfsTer17
NM_001282549.1:c.157del	NP_001269478.1:p.Cys53ValfsTer5
NR_104212.1:n.299del
NR_104215.1:n.299del
NR_104216.1:n.299del
XM_011511568.1:c.157del	XP_011509870.1:p.Cys53ValfsTer5
XM_017004613.1:c.157del	XP_016860102.1:p.Cys53ValfsTer5
XM_017004614.1:c.157del	XP_016860103.1:p.Cys53ValfsTer5
XR_002959322.1:n.248del
NM_000465.4:c.157del MANE Select	NP_000456.2:p.Cys53ValfsTer5
NM_001282543.2:c.157del	NP_001269472.1:p.Cys53ValfsTer4
NM_001282545.2:c.157del	NP_001269474.1:p.Cys53ValfsTer5
NM_001282548.2:c.157del	NP_001269477.1:p.Cys53ValfsTer17
NM_001282549.2:c.157del	NP_001269478.1:p.Cys53ValfsTer5
NR_104212.2:n.271del
NR_104215.2:n.271del
NR_104216.2:n.271del