Canonical Allele Identifier: CA350448984

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214767656T>G , CM000664.2:g.214767656T>G	GRCh38
NC_000002.11:g.215632380T>G , CM000664.1:g.215632380T>G	GRCh37
NC_000002.10:g.215340625T>G	NCBI36
NG_012047.2:g.47049A>C
NG_012047.3:g.47056A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.1396-2A>C MANE Select	NP_000456.2:n.1396-2A>C
ENST00000260947.9:c.1396-2A>C MANE Select	ENSP00000260947.4:n.1396-2A>C
NM_000465.3:c.1396-2A>C	NP_000456.2:n.1396-2A>C
NM_001282543.1:c.1339-2A>C	NP_001269472.1:n.1339-2A>C
NM_001282543.2:c.1339-2A>C	NP_001269472.1:n.1339-2A>C
NM_001282545.1:c.216-15101A>C	NP_001269474.1:n.216-15101A>C
NM_001282545.2:c.216-15101A>C	NP_001269474.1:n.216-15101A>C
NM_001282548.1:c.159-15101A>C	NP_001269477.1:n.159-15101A>C
NM_001282548.2:c.159-15101A>C	NP_001269477.1:n.159-15101A>C
NM_001282549.1:c.364+24641A>C	NP_001269478.1:n.364+24641A>C
NM_001282549.2:c.364+24641A>C	NP_001269478.1:n.364+24641A>C
NR_104212.1:n.1389-2A>C
NR_104212.2:n.1361-2A>C
NR_104215.1:n.1332-2A>C
NR_104215.2:n.1304-2A>C
NR_104216.1:n.588-2A>C
NR_104216.2:n.560-2A>C
ENST00000260947.8:c.1396-2A>C	ENSP00000260947.4:n.1396-2A>C
ENST00000421162.1:c.216-15101A>C	ENSP00000392245.1:n.216-15101A>C
ENST00000421162.2:c.216-15101A>C	ENSP00000392245.2:n.216-15101A>C
ENST00000455743.5:c.*1016-2A>C	ENSP00000412186.1:n.*1016-2A>C
ENST00000613192.1:c.74-37148A>C	ENSP00000483275.1:n.74-37148A>C
ENST00000613192.2:c.159-37148A>C	ENSP00000483275.2:n.159-37148A>C
ENST00000613374.4:c.159-15101A>C	ENSP00000484464.1:n.159-15101A>C
ENST00000613374.5:c.159-15101A>C	ENSP00000484464.1:n.159-15101A>C
ENST00000613706.4:c.216-15101A>C	ENSP00000484976.1:n.216-15101A>C
ENST00000613706.5:c.988-2A>C	ENSP00000484976.2:n.988-2A>C
ENST00000617164.4:c.1339-2A>C	ENSP00000480470.1:n.1339-2A>C
ENST00000617164.5:c.1339-2A>C	ENSP00000480470.1:n.1339-2A>C
ENST00000619009.4:c.364+24641A>C	ENSP00000482293.1:n.364+24641A>C
ENST00000619009.5:c.364+24641A>C	ENSP00000482293.1:n.364+24641A>C
ENST00000620057.4:c.*62-2A>C	ENSP00000481988.1:n.*62-2A>C
ENST00000650978.1:c.2771-2A>C
XM_011511567.1:c.1342-2A>C	XP_011509869.1:n.1342-2A>C
XM_011511568.1:c.1396-2A>C	XP_011509870.1:n.1396-2A>C
XM_017004613.1:c.1495-2A>C	XP_016860102.1:n.1495-2A>C
XM_017004614.1:c.1495-2A>C	XP_016860103.1:n.1495-2A>C
XR_002959322.1:n.1586-2A>C