Canonical Allele Identifier: CA350461241

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792417C>A , CM000664.2:g.214792417C>A	GRCh38
NC_000002.11:g.215657141C>A , CM000664.1:g.215657141C>A	GRCh37
NC_000002.10:g.215365386C>A	NCBI36
NG_012047.2:g.22288G>T
NG_012047.3:g.22295G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.244G>T MANE Select	NP_000456.2:p.Gly82Ter
ENST00000260947.9:c.244G>T MANE Select	ENSP00000260947.4:p.Gly82Ter
NM_000465.3:c.244G>T	NP_000456.2:p.Gly82Ter
NM_001282543.1:c.187G>T	NP_001269472.1:p.Gly63Ter
NM_001282543.2:c.187G>T	NP_001269472.1:p.Gly63Ter
NM_001282545.1:c.215+4644G>T	NP_001269474.1:n.215+4644G>T
NM_001282545.2:c.215+4644G>T	NP_001269474.1:n.215+4644G>T
NM_001282548.1:c.158+16995G>T	NP_001269477.1:n.158+16995G>T
NM_001282548.2:c.158+16995G>T	NP_001269477.1:n.158+16995G>T
NM_001282549.1:c.244G>T	NP_001269478.1:p.Gly82Ter
NM_001282549.2:c.244G>T	NP_001269478.1:p.Gly82Ter
NR_104212.1:n.357+4644G>T
NR_104212.2:n.329+4644G>T
NR_104215.1:n.301-10908G>T
NR_104215.2:n.273-10908G>T
NR_104216.1:n.386G>T
NR_104216.2:n.358G>T
ENST00000260947.8:c.244G>T	ENSP00000260947.4:p.Gly82Ter
ENST00000421162.1:c.215+4644G>T	ENSP00000392245.1:n.215+4644G>T
ENST00000421162.2:c.215+4644G>T	ENSP00000392245.2:n.215+4644G>T
ENST00000455743.5:c.215+4644G>T	ENSP00000412186.1:n.215+4644G>T
ENST00000471787.1:n.260-10908G>T
ENST00000613192.1:c.73+16995G>T	ENSP00000483275.1:n.73+16995G>T
ENST00000613192.2:c.158+16995G>T	ENSP00000483275.2:n.158+16995G>T
ENST00000613374.4:c.158+16995G>T	ENSP00000484464.1:n.158+16995G>T
ENST00000613374.5:c.158+16995G>T	ENSP00000484464.1:n.158+16995G>T
ENST00000613706.4:c.215+4644G>T	ENSP00000484976.1:n.215+4644G>T
ENST00000613706.5:c.244G>T	ENSP00000484976.2:p.Gly82Ter
ENST00000617164.4:c.187G>T	ENSP00000480470.1:p.Gly63Ter
ENST00000617164.5:c.187G>T	ENSP00000480470.1:p.Gly63Ter
ENST00000619009.4:c.244G>T	ENSP00000482293.1:p.Gly82Ter
ENST00000619009.5:c.244G>T	ENSP00000482293.1:p.Gly82Ter
ENST00000620057.4:c.244G>T	ENSP00000481988.1:p.Gly82Ter
ENST00000650978.1:c.86G>T
XM_011511567.1:c.190G>T	XP_011509869.1:p.Gly64Ter
XM_011511568.1:c.244G>T	XP_011509870.1:p.Gly82Ter
XM_017004613.1:c.343G>T	XP_016860102.1:p.Gly115Ter
XM_017004614.1:c.343G>T	XP_016860103.1:p.Gly115Ter
XR_002959322.1:n.434G>T