Canonical Allele Identifier: CA2701526472

Gene: BARD1

Linked Data

• dbSNP Id: rs2106135529

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792444del , CM000664.2:g.214792444del	GRCh38
NC_000002.11:g.215657168del , CM000664.1:g.215657168del	GRCh37
NC_000002.10:g.215365413del	NCBI36
NG_012047.2:g.22262del
NG_012047.3:g.22269del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.218del MANE Select	ENSP00000260947.4:p.Asn73IlefsTer3
ENST00000421162.2:c.215+4618del	ENSP00000392245.2:n.215+4618del
ENST00000613192.2:c.158+16969del	ENSP00000483275.2:n.158+16969del
ENST00000613374.5:c.158+16969del	ENSP00000484464.1:n.158+16969del
ENST00000613706.5:c.218del	ENSP00000484976.2:p.Asn73IlefsTer3
ENST00000617164.5:c.161del	ENSP00000480470.1:p.Asn54IlefsTer3
ENST00000619009.5:c.218del	ENSP00000482293.1:p.Asn73IlefsTer3
ENST00000650978.1:c.60del
ENST00000260947.8:c.218del	ENSP00000260947.4:p.Asn73IlefsTer3
ENST00000421162.1:c.215+4618del	ENSP00000392245.1:n.215+4618del
ENST00000455743.5:c.215+4618del	ENSP00000412186.1:n.215+4618del
ENST00000471787.1:n.260-10934del
ENST00000613192.1:c.73+16969del	ENSP00000483275.1:n.73+16969del
ENST00000613374.4:c.158+16969del	ENSP00000484464.1:n.158+16969del
ENST00000613706.4:c.215+4618del	ENSP00000484976.1:n.215+4618del
ENST00000617164.4:c.161del	ENSP00000480470.1:p.Asn54IlefsTer3
ENST00000619009.4:c.218del	ENSP00000482293.1:p.Asn73IlefsTer3
ENST00000620057.4:c.218del	ENSP00000481988.1:p.Asn73IlefsTer3
NM_000465.3:c.218del	NP_000456.2:p.Asn73IlefsTer3
NM_001282543.1:c.161del	NP_001269472.1:p.Asn54IlefsTer3
NM_001282545.1:c.215+4618del	NP_001269474.1:n.215+4618del
NM_001282548.1:c.158+16969del	NP_001269477.1:n.158+16969del
NM_001282549.1:c.218del	NP_001269478.1:p.Asn73IlefsTer3
NR_104212.1:n.357+4618del
NR_104215.1:n.301-10934del
NR_104216.1:n.360del
XM_011511567.1:c.164del	XP_011509869.1:p.Asn55IlefsTer3
XM_011511568.1:c.218del	XP_011509870.1:p.Asn73IlefsTer3
XM_017004613.1:c.317del	XP_016860102.1:p.Asn106IlefsTer3
XM_017004614.1:c.317del	XP_016860103.1:p.Asn106IlefsTer3
XR_002959322.1:n.408del
NM_000465.4:c.218del MANE Select	NP_000456.2:p.Asn73IlefsTer3
NM_001282543.2:c.161del	NP_001269472.1:p.Asn54IlefsTer3
NM_001282545.2:c.215+4618del	NP_001269474.1:n.215+4618del
NM_001282548.2:c.158+16969del	NP_001269477.1:n.158+16969del
NM_001282549.2:c.218del	NP_001269478.1:p.Asn73IlefsTer3
NR_104212.2:n.329+4618del
NR_104215.2:n.273-10934del
NR_104216.2:n.332del