Canonical Allele Identifier: CA2697550334

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767667T>C , CM000664.2:g.214767667T>C	GRCh38
NC_000002.11:g.215632391T>C , CM000664.1:g.215632391T>C	GRCh37
NC_000002.10:g.215340636T>C	NCBI36
NG_012047.2:g.47038A>G
NG_012047.3:g.47045A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1396-13A>G MANE Select	NP_000456.2:n.1396-13A>G
ENST00000260947.9:c.1396-13A>G MANE Select	ENSP00000260947.4:n.1396-13A>G
NM_000465.3:c.1396-13A>G	NP_000456.2:n.1396-13A>G
NM_001282543.1:c.1339-13A>G	NP_001269472.1:n.1339-13A>G
NM_001282543.2:c.1339-13A>G	NP_001269472.1:n.1339-13A>G
NM_001282545.1:c.216-15112A>G	NP_001269474.1:n.216-15112A>G
NM_001282545.2:c.216-15112A>G	NP_001269474.1:n.216-15112A>G
NM_001282548.1:c.159-15112A>G	NP_001269477.1:n.159-15112A>G
NM_001282548.2:c.159-15112A>G	NP_001269477.1:n.159-15112A>G
NM_001282549.1:c.364+24630A>G	NP_001269478.1:n.364+24630A>G
NM_001282549.2:c.364+24630A>G	NP_001269478.1:n.364+24630A>G
NR_104212.1:n.1389-13A>G
NR_104212.2:n.1361-13A>G
NR_104215.1:n.1332-13A>G
NR_104215.2:n.1304-13A>G
NR_104216.1:n.588-13A>G
NR_104216.2:n.560-13A>G
ENST00000260947.8:c.1396-13A>G	ENSP00000260947.4:n.1396-13A>G
ENST00000421162.1:c.216-15112A>G	ENSP00000392245.1:n.216-15112A>G
ENST00000421162.2:c.216-15112A>G	ENSP00000392245.2:n.216-15112A>G
ENST00000455743.5:c.*1016-13A>G	ENSP00000412186.1:n.*1016-13A>G
ENST00000613192.1:c.74-37159A>G	ENSP00000483275.1:n.74-37159A>G
ENST00000613192.2:c.159-37159A>G	ENSP00000483275.2:n.159-37159A>G
ENST00000613374.4:c.159-15112A>G	ENSP00000484464.1:n.159-15112A>G
ENST00000613374.5:c.159-15112A>G	ENSP00000484464.1:n.159-15112A>G
ENST00000613706.4:c.216-15112A>G	ENSP00000484976.1:n.216-15112A>G
ENST00000613706.5:c.988-13A>G	ENSP00000484976.2:n.988-13A>G
ENST00000617164.4:c.1339-13A>G	ENSP00000480470.1:n.1339-13A>G
ENST00000617164.5:c.1339-13A>G	ENSP00000480470.1:n.1339-13A>G
ENST00000619009.4:c.364+24630A>G	ENSP00000482293.1:n.364+24630A>G
ENST00000619009.5:c.364+24630A>G	ENSP00000482293.1:n.364+24630A>G
ENST00000620057.4:c.*62-13A>G	ENSP00000481988.1:n.*62-13A>G
ENST00000650978.1:c.2771-13A>G
XM_011511567.1:c.1342-13A>G	XP_011509869.1:n.1342-13A>G
XM_011511568.1:c.1396-13A>G	XP_011509870.1:n.1396-13A>G
XM_017004613.1:c.1495-13A>G	XP_016860102.1:n.1495-13A>G
XM_017004614.1:c.1495-13A>G	XP_016860103.1:n.1495-13A>G
XR_002959322.1:n.1586-13A>G