Canonical Allele Identifier: CA2499215628

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1076077
• ClinVar RCV Id: RCV001389853
• dbSNP Id: rs2106110129

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781020del , CM000664.2:g.214781020del	GRCh38
NC_000002.11:g.215645744del , CM000664.1:g.215645744del	GRCh37
NC_000002.10:g.215353989del	NCBI36
NG_012047.2:g.33687del
NG_012047.3:g.33694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.856del MANE Select	ENSP00000260947.4:p.Ile286Ter
ENST00000421162.2:c.215+16043del	ENSP00000392245.2:n.215+16043del
ENST00000613192.2:c.158+28394del	ENSP00000483275.2:n.158+28394del
ENST00000613374.5:c.158+28394del	ENSP00000484464.1:n.158+28394del
ENST00000613706.5:c.856del	ENSP00000484976.2:p.Ile286Ter
ENST00000617164.5:c.799del	ENSP00000480470.1:p.Ile267Ter
ENST00000619009.5:c.364+11279del	ENSP00000482293.1:n.364+11279del
ENST00000650978.1:c.698del
ENST00000260947.8:c.856del	ENSP00000260947.4:p.Ile286Ter
ENST00000421162.1:c.215+16043del	ENSP00000392245.1:n.215+16043del
ENST00000455743.5:c.*476del	ENSP00000412186.1:n.*476del
ENST00000471787.1:n.751del
ENST00000613192.1:c.73+28394del	ENSP00000483275.1:n.73+28394del
ENST00000613374.4:c.158+28394del	ENSP00000484464.1:n.158+28394del
ENST00000613706.4:c.215+16043del	ENSP00000484976.1:n.215+16043del
ENST00000617164.4:c.799del	ENSP00000480470.1:p.Ile267Ter
ENST00000619009.4:c.364+11279del	ENSP00000482293.1:n.364+11279del
ENST00000620057.4:c.364+11279del	ENSP00000481988.1:n.364+11279del
NM_000465.3:c.856del	NP_000456.2:p.Ile286Ter
NM_001282543.1:c.799del	NP_001269472.1:p.Ile267Ter
NM_001282545.1:c.215+16043del	NP_001269474.1:n.215+16043del
NM_001282548.1:c.158+28394del	NP_001269477.1:n.158+28394del
NM_001282549.1:c.364+11279del	NP_001269478.1:n.364+11279del
NR_104212.1:n.849del
NR_104215.1:n.792del
NR_104216.1:n.506+11279del
XM_011511567.1:c.802del	XP_011509869.1:p.Ile268Ter
XM_011511568.1:c.856del	XP_011509870.1:p.Ile286Ter
XM_017004613.1:c.955del	XP_016860102.1:p.Ile319Ter
XM_017004614.1:c.955del	XP_016860103.1:p.Ile319Ter
XR_002959322.1:n.1046del
NM_000465.4:c.856del MANE Select	NP_000456.2:p.Ile286Ter
NM_001282543.2:c.799del	NP_001269472.1:p.Ile267Ter
NM_001282545.2:c.215+16043del	NP_001269474.1:n.215+16043del
NM_001282548.2:c.158+28394del	NP_001269477.1:n.158+28394del
NM_001282549.2:c.364+11279del	NP_001269478.1:n.364+11279del
NR_104212.2:n.821del
NR_104215.2:n.764del
NR_104216.2:n.478+11279del