Canonical Allele Identifier: CA2837994505

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214781281del , CM000664.2:g.214781281del	GRCh38
NC_000002.11:g.215646005del , CM000664.1:g.215646005del	GRCh37
NC_000002.10:g.215354250del	NCBI36
NG_012047.2:g.33424del
NG_012047.3:g.33431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.593del MANE Select	ENSP00000260947.4:p.Ala198ValfsTer14
ENST00000421162.2:c.215+15780del	ENSP00000392245.2:n.215+15780del
ENST00000613192.2:c.158+28131del	ENSP00000483275.2:n.158+28131del
ENST00000613374.5:c.158+28131del	ENSP00000484464.1:n.158+28131del
ENST00000613706.5:c.593del	ENSP00000484976.2:p.Ala198ValfsTer14
ENST00000617164.5:c.536del	ENSP00000480470.1:p.Ala179ValfsTer14
ENST00000619009.5:c.364+11016del	ENSP00000482293.1:n.364+11016del
ENST00000650978.1:c.435del
ENST00000260947.8:c.593del	ENSP00000260947.4:p.Ala198ValfsTer14
ENST00000421162.1:c.215+15780del	ENSP00000392245.1:n.215+15780del
ENST00000455743.5:c.*213del	ENSP00000412186.1:n.*213del
ENST00000471787.1:n.488del
ENST00000613192.1:c.73+28131del	ENSP00000483275.1:n.73+28131del
ENST00000613374.4:c.158+28131del	ENSP00000484464.1:n.158+28131del
ENST00000613706.4:c.215+15780del	ENSP00000484976.1:n.215+15780del
ENST00000617164.4:c.536del	ENSP00000480470.1:p.Ala179ValfsTer14
ENST00000619009.4:c.364+11016del	ENSP00000482293.1:n.364+11016del
ENST00000620057.4:c.364+11016del	ENSP00000481988.1:n.364+11016del
NM_000465.3:c.593del	NP_000456.2:p.Ala198ValfsTer14
NM_001282543.1:c.536del	NP_001269472.1:p.Ala179ValfsTer14
NM_001282545.1:c.215+15780del	NP_001269474.1:n.215+15780del
NM_001282548.1:c.158+28131del	NP_001269477.1:n.158+28131del
NM_001282549.1:c.364+11016del	NP_001269478.1:n.364+11016del
NR_104212.1:n.586del
NR_104215.1:n.529del
NR_104216.1:n.506+11016del
XM_011511567.1:c.539del	XP_011509869.1:p.Ala180ValfsTer14
XM_011511568.1:c.593del	XP_011509870.1:p.Ala198ValfsTer14
XM_017004613.1:c.692del	XP_016860102.1:p.Ala231ValfsTer14
XM_017004614.1:c.692del	XP_016860103.1:p.Ala231ValfsTer14
XR_002959322.1:n.783del
NM_000465.4:c.593del MANE Select	NP_000456.2:p.Ala198ValfsTer14
NM_001282543.2:c.536del	NP_001269472.1:p.Ala179ValfsTer14
NM_001282545.2:c.215+15780del	NP_001269474.1:n.215+15780del
NM_001282548.2:c.158+28131del	NP_001269477.1:n.158+28131del
NM_001282549.2:c.364+11016del	NP_001269478.1:n.364+11016del
NR_104212.2:n.558del
NR_104215.2:n.501del
NR_104216.2:n.478+11016del