Canonical Allele Identifier: CA2582342115

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2583313
• ClinVar RCV Id: RCV003336984

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781440dup , CM000664.2:g.214781440dup	GRCh38
NC_000002.11:g.215646164dup , CM000664.1:g.215646164dup	GRCh37
NC_000002.10:g.215354409dup	NCBI36
NG_012047.2:g.33265dup
NG_012047.3:g.33272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.434dup MANE Select	ENSP00000260947.4:p.Met145IlefsTer4
ENST00000421162.2:c.215+15621dup	ENSP00000392245.2:n.215+15621dup
ENST00000613192.2:c.158+27972dup	ENSP00000483275.2:n.158+27972dup
ENST00000613374.5:c.158+27972dup	ENSP00000484464.1:n.158+27972dup
ENST00000613706.5:c.434dup	ENSP00000484976.2:p.Met145IlefsTer4
ENST00000617164.5:c.377dup	ENSP00000480470.1:p.Met126IlefsTer4
ENST00000619009.5:c.364+10857dup	ENSP00000482293.1:n.364+10857dup
ENST00000650978.1:c.276dup
ENST00000260947.8:c.434dup	ENSP00000260947.4:p.Met145IlefsTer4
ENST00000421162.1:c.215+15621dup	ENSP00000392245.1:n.215+15621dup
ENST00000455743.5:c.*54dup	ENSP00000412186.1:n.*54dup
ENST00000471787.1:n.329dup
ENST00000613192.1:c.73+27972dup	ENSP00000483275.1:n.73+27972dup
ENST00000613374.4:c.158+27972dup	ENSP00000484464.1:n.158+27972dup
ENST00000613706.4:c.215+15621dup	ENSP00000484976.1:n.215+15621dup
ENST00000617164.4:c.377dup	ENSP00000480470.1:p.Met126IlefsTer4
ENST00000619009.4:c.364+10857dup	ENSP00000482293.1:n.364+10857dup
ENST00000620057.4:c.364+10857dup	ENSP00000481988.1:n.364+10857dup
NM_000465.3:c.434dup	NP_000456.2:p.Met145IlefsTer4
NM_001282543.1:c.377dup	NP_001269472.1:p.Met126IlefsTer4
NM_001282545.1:c.215+15621dup	NP_001269474.1:n.215+15621dup
NM_001282548.1:c.158+27972dup	NP_001269477.1:n.158+27972dup
NM_001282549.1:c.364+10857dup	NP_001269478.1:n.364+10857dup
NR_104212.1:n.427dup
NR_104215.1:n.370dup
NR_104216.1:n.506+10857dup
XM_011511567.1:c.380dup	XP_011509869.1:p.Met127IlefsTer4
XM_011511568.1:c.434dup	XP_011509870.1:p.Met145IlefsTer4
XM_017004613.1:c.533dup	XP_016860102.1:p.Met178IlefsTer4
XM_017004614.1:c.533dup	XP_016860103.1:p.Met178IlefsTer4
XR_002959322.1:n.624dup
NM_000465.4:c.434dup MANE Select	NP_000456.2:p.Met145IlefsTer4
NM_001282543.2:c.377dup	NP_001269472.1:p.Met126IlefsTer4
NM_001282545.2:c.215+15621dup	NP_001269474.1:n.215+15621dup
NM_001282548.2:c.158+27972dup	NP_001269477.1:n.158+27972dup
NM_001282549.2:c.364+10857dup	NP_001269478.1:n.364+10857dup
NR_104212.2:n.399dup
NR_104215.2:n.342dup
NR_104216.2:n.478+10857dup