Canonical Allele Identifier: CA1327076717

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1015028
• ClinVar RCV Id: RCV001313841
• dbSNP Id: rs1695564417

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792399_214792413del , CM000664.2:g.214792399_214792413del	GRCh38
NC_000002.11:g.215657123_215657137del , CM000664.1:g.215657123_215657137del	GRCh37
NC_000002.10:g.215365368_215365382del	NCBI36
NG_012047.2:g.22292_22306del
NG_012047.3:g.22299_22313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.248_262del MANE Select	ENSP00000260947.4:p.Cys83_Thr88delinsSer
ENST00000421162.2:c.215+4648_215+4662del	ENSP00000392245.2:n.215+4648_215+4662del
ENST00000613192.2:c.158+16999_158+17013del	ENSP00000483275.2:n.158+16999_158+17013del
ENST00000613374.5:c.158+16999_158+17013del	ENSP00000484464.1:n.158+16999_158+17013del
ENST00000613706.5:c.248_262del	ENSP00000484976.2:p.Cys83_Thr88delinsSer
ENST00000617164.5:c.191_205del	ENSP00000480470.1:p.Cys64_Thr69delinsSer
ENST00000619009.5:c.248_262del	ENSP00000482293.1:p.Cys83_Thr88delinsSer
ENST00000650978.1:c.90_104del
ENST00000260947.8:c.248_262del	ENSP00000260947.4:p.Cys83_Thr88delinsSer
ENST00000421162.1:c.215+4648_215+4662del	ENSP00000392245.1:n.215+4648_215+4662del
ENST00000455743.5:c.215+4648_215+4662del	ENSP00000412186.1:n.215+4648_215+4662del
ENST00000471787.1:n.260-10904_260-10890del
ENST00000613192.1:c.73+16999_73+17013del	ENSP00000483275.1:n.73+16999_73+17013del
ENST00000613374.4:c.158+16999_158+17013del	ENSP00000484464.1:n.158+16999_158+17013del
ENST00000613706.4:c.215+4648_215+4662del	ENSP00000484976.1:n.215+4648_215+4662del
ENST00000617164.4:c.191_205del	ENSP00000480470.1:p.Cys64_Thr69delinsSer
ENST00000619009.4:c.248_262del	ENSP00000482293.1:p.Cys83_Thr88delinsSer
ENST00000620057.4:c.248_262del	ENSP00000481988.1:p.Cys83_Thr88delinsSer
NM_000465.3:c.248_262del	NP_000456.2:p.Cys83_Thr88delinsSer
NM_001282543.1:c.191_205del	NP_001269472.1:p.Cys64_Thr69delinsSer
NM_001282545.1:c.215+4648_215+4662del	NP_001269474.1:n.215+4648_215+4662del
NM_001282548.1:c.158+16999_158+17013del	NP_001269477.1:n.158+16999_158+17013del
NM_001282549.1:c.248_262del	NP_001269478.1:p.Cys83_Thr88delinsSer
NR_104212.1:n.357+4648_357+4662del
NR_104215.1:n.301-10904_301-10890del
NR_104216.1:n.390_404del
XM_011511567.1:c.194_208del	XP_011509869.1:p.Cys65_Thr70delinsSer
XM_011511568.1:c.248_262del	XP_011509870.1:p.Cys83_Thr88delinsSer
XM_017004613.1:c.347_361del	XP_016860102.1:p.Cys116_Thr121delinsSer
XM_017004614.1:c.347_361del	XP_016860103.1:p.Cys116_Thr121delinsSer
XR_002959322.1:n.438_452del
NM_000465.4:c.248_262del MANE Select	NP_000456.2:p.Cys83_Thr88delinsSer
NM_001282543.2:c.191_205del	NP_001269472.1:p.Cys64_Thr69delinsSer
NM_001282545.2:c.215+4648_215+4662del	NP_001269474.1:n.215+4648_215+4662del
NM_001282548.2:c.158+16999_158+17013del	NP_001269477.1:n.158+16999_158+17013del
NM_001282549.2:c.248_262del	NP_001269478.1:p.Cys83_Thr88delinsSer
NR_104212.2:n.329+4648_329+4662del
NR_104215.2:n.273-10904_273-10890del
NR_104216.2:n.362_376del