Canonical Allele Identifier: CA2499215627

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1074066
• ClinVar RCV Id: RCV001387243
• dbSNP Id: rs2106109750

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780949dup , CM000664.2:g.214780949dup	GRCh38
NC_000002.11:g.215645673dup , CM000664.1:g.215645673dup	GRCh37
NC_000002.10:g.215353918dup	NCBI36
NG_012047.2:g.33756dup
NG_012047.3:g.33763dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.925dup MANE Select	ENSP00000260947.4:p.Thr309AsnfsTer3
ENST00000421162.2:c.215+16112dup	ENSP00000392245.2:n.215+16112dup
ENST00000613192.2:c.158+28463dup	ENSP00000483275.2:n.158+28463dup
ENST00000613374.5:c.159-28394dup	ENSP00000484464.1:n.159-28394dup
ENST00000613706.5:c.906+19dup	ENSP00000484976.2:n.906+19dup
ENST00000617164.5:c.868dup	ENSP00000480470.1:p.Thr290AsnfsTer3
ENST00000619009.5:c.364+11348dup	ENSP00000482293.1:n.364+11348dup
ENST00000650978.1:c.767dup
ENST00000260947.8:c.925dup	ENSP00000260947.4:p.Thr309AsnfsTer3
ENST00000421162.1:c.215+16112dup	ENSP00000392245.1:n.215+16112dup
ENST00000455743.5:c.*545dup	ENSP00000412186.1:n.*545dup
ENST00000471787.1:n.820dup
ENST00000613192.1:c.73+28463dup	ENSP00000483275.1:n.73+28463dup
ENST00000613374.4:c.159-28394dup	ENSP00000484464.1:n.159-28394dup
ENST00000613706.4:c.215+16112dup	ENSP00000484976.1:n.215+16112dup
ENST00000617164.4:c.868dup	ENSP00000480470.1:p.Thr290AsnfsTer3
ENST00000619009.4:c.364+11348dup	ENSP00000482293.1:n.364+11348dup
ENST00000620057.4:c.364+11348dup	ENSP00000481988.1:n.364+11348dup
NM_000465.3:c.925dup	NP_000456.2:p.Thr309AsnfsTer3
NM_001282543.1:c.868dup	NP_001269472.1:p.Thr290AsnfsTer3
NM_001282545.1:c.215+16112dup	NP_001269474.1:n.215+16112dup
NM_001282548.1:c.159-28394dup	NP_001269477.1:n.159-28394dup
NM_001282549.1:c.364+11348dup	NP_001269478.1:n.364+11348dup
NR_104212.1:n.918dup
NR_104215.1:n.861dup
NR_104216.1:n.506+11348dup
XM_011511567.1:c.871dup	XP_011509869.1:p.Thr291AsnfsTer3
XM_011511568.1:c.925dup	XP_011509870.1:p.Thr309AsnfsTer3
XM_017004613.1:c.1024dup	XP_016860102.1:p.Thr342AsnfsTer3
XM_017004614.1:c.1024dup	XP_016860103.1:p.Thr342AsnfsTer3
XR_002959322.1:n.1115dup
NM_000465.4:c.925dup MANE Select	NP_000456.2:p.Thr309AsnfsTer3
NM_001282543.2:c.868dup	NP_001269472.1:p.Thr290AsnfsTer3
NM_001282545.2:c.215+16112dup	NP_001269474.1:n.215+16112dup
NM_001282548.2:c.159-28394dup	NP_001269477.1:n.159-28394dup
NM_001282549.2:c.364+11348dup	NP_001269478.1:n.364+11348dup
NR_104212.2:n.890dup
NR_104215.2:n.833dup
NR_104216.2:n.478+11348dup