Canonical Allele Identifier: CA350450121

Gene: BARD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214769242C>T , CM000664.2:g.214769242C>T	GRCh38
NC_000002.11:g.215633966C>T , CM000664.1:g.215633966C>T	GRCh37
NC_000002.10:g.215342211C>T	NCBI36
NG_012047.2:g.45463G>A
NG_012047.3:g.45470G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1385G>A MANE Select	ENSP00000260947.4:p.Trp462Ter
ENST00000421162.2:c.216-16687G>A	ENSP00000392245.2:n.216-16687G>A
ENST00000613192.2:c.159-38734G>A	ENSP00000483275.2:n.159-38734G>A
ENST00000613374.5:c.159-16687G>A	ENSP00000484464.1:n.159-16687G>A
ENST00000613706.5:c.977G>A	ENSP00000484976.2:p.Trp326Ter
ENST00000617164.5:c.1328G>A	ENSP00000480470.1:p.Trp443Ter
ENST00000619009.5:c.364+23055G>A	ENSP00000482293.1:n.364+23055G>A
ENST00000650978.1:c.2760G>A
ENST00000260947.8:c.1385G>A	ENSP00000260947.4:p.Trp462Ter
ENST00000421162.1:c.216-16687G>A	ENSP00000392245.1:n.216-16687G>A
ENST00000455743.5:c.*1005G>A	ENSP00000412186.1:n.*1005G>A
ENST00000613192.1:c.74-38734G>A	ENSP00000483275.1:n.74-38734G>A
ENST00000613374.4:c.159-16687G>A	ENSP00000484464.1:n.159-16687G>A
ENST00000613706.4:c.216-16687G>A	ENSP00000484976.1:n.216-16687G>A
ENST00000617164.4:c.1328G>A	ENSP00000480470.1:p.Trp443Ter
ENST00000619009.4:c.364+23055G>A	ENSP00000482293.1:n.364+23055G>A
ENST00000620057.4:c.*51G>A	ENSP00000481988.1:n.*51G>A
NM_000465.3:c.1385G>A	NP_000456.2:p.Trp462Ter
NM_001282543.1:c.1328G>A	NP_001269472.1:p.Trp443Ter
NM_001282545.1:c.216-16687G>A	NP_001269474.1:n.216-16687G>A
NM_001282548.1:c.159-16687G>A	NP_001269477.1:n.159-16687G>A
NM_001282549.1:c.364+23055G>A	NP_001269478.1:n.364+23055G>A
NR_104212.1:n.1378G>A
NR_104215.1:n.1321G>A
NR_104216.1:n.577G>A
XM_011511567.1:c.1331G>A	XP_011509869.1:p.Trp444Ter
XM_011511568.1:c.1385G>A	XP_011509870.1:p.Trp462Ter
XM_017004613.1:c.1484G>A	XP_016860102.1:p.Trp495Ter
XM_017004614.1:c.1484G>A	XP_016860103.1:p.Trp495Ter
XR_002959322.1:n.1575G>A
NM_000465.4:c.1385G>A MANE Select	NP_000456.2:p.Trp462Ter
NM_001282543.2:c.1328G>A	NP_001269472.1:p.Trp443Ter
NM_001282545.2:c.216-16687G>A	NP_001269474.1:n.216-16687G>A
NM_001282548.2:c.159-16687G>A	NP_001269477.1:n.159-16687G>A
NM_001282549.2:c.364+23055G>A	NP_001269478.1:n.364+23055G>A
NR_104212.2:n.1350G>A
NR_104215.2:n.1293G>A
NR_104216.2:n.549G>A