Canonical Allele Identifier: CA2582342094

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583637
• ClinVar RCV Id: RCV003334559

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781144dup , CM000664.2:g.214781144dup	GRCh38
NC_000002.11:g.215645868dup , CM000664.1:g.215645868dup	GRCh37
NC_000002.10:g.215354113dup	NCBI36
NG_012047.2:g.33561dup
NG_012047.3:g.33568dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.730dup MANE Select	ENSP00000260947.4:p.Ser244LysfsTer14
ENST00000421162.2:c.215+15917dup	ENSP00000392245.2:n.215+15917dup
ENST00000613192.2:c.158+28268dup	ENSP00000483275.2:n.158+28268dup
ENST00000613374.5:c.158+28268dup	ENSP00000484464.1:n.158+28268dup
ENST00000613706.5:c.730dup	ENSP00000484976.2:p.Ser244LysfsTer14
ENST00000617164.5:c.673dup	ENSP00000480470.1:p.Ser225LysfsTer14
ENST00000619009.5:c.364+11153dup	ENSP00000482293.1:n.364+11153dup
ENST00000650978.1:c.572dup
ENST00000260947.8:c.730dup	ENSP00000260947.4:p.Ser244LysfsTer14
ENST00000421162.1:c.215+15917dup	ENSP00000392245.1:n.215+15917dup
ENST00000455743.5:c.*350dup	ENSP00000412186.1:n.*350dup
ENST00000471787.1:n.625dup
ENST00000613192.1:c.73+28268dup	ENSP00000483275.1:n.73+28268dup
ENST00000613374.4:c.158+28268dup	ENSP00000484464.1:n.158+28268dup
ENST00000613706.4:c.215+15917dup	ENSP00000484976.1:n.215+15917dup
ENST00000617164.4:c.673dup	ENSP00000480470.1:p.Ser225LysfsTer14
ENST00000619009.4:c.364+11153dup	ENSP00000482293.1:n.364+11153dup
ENST00000620057.4:c.364+11153dup	ENSP00000481988.1:n.364+11153dup
NM_000465.3:c.730dup	NP_000456.2:p.Ser244LysfsTer14
NM_001282543.1:c.673dup	NP_001269472.1:p.Ser225LysfsTer14
NM_001282545.1:c.215+15917dup	NP_001269474.1:n.215+15917dup
NM_001282548.1:c.158+28268dup	NP_001269477.1:n.158+28268dup
NM_001282549.1:c.364+11153dup	NP_001269478.1:n.364+11153dup
NR_104212.1:n.723dup
NR_104215.1:n.666dup
NR_104216.1:n.506+11153dup
XM_011511567.1:c.676dup	XP_011509869.1:p.Ser226LysfsTer14
XM_011511568.1:c.730dup	XP_011509870.1:p.Ser244LysfsTer14
XM_017004613.1:c.829dup	XP_016860102.1:p.Ser277LysfsTer14
XM_017004614.1:c.829dup	XP_016860103.1:p.Ser277LysfsTer14
XR_002959322.1:n.920dup
NM_000465.4:c.730dup MANE Select	NP_000456.2:p.Ser244LysfsTer14
NM_001282543.2:c.673dup	NP_001269472.1:p.Ser225LysfsTer14
NM_001282545.2:c.215+15917dup	NP_001269474.1:n.215+15917dup
NM_001282548.2:c.158+28268dup	NP_001269477.1:n.158+28268dup
NM_001282549.2:c.364+11153dup	NP_001269478.1:n.364+11153dup
NR_104212.2:n.695dup
NR_104215.2:n.638dup
NR_104216.2:n.478+11153dup