Canonical Allele Identifier: CA3249309944

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792414_214792416del , CM000664.2:g.214792414_214792416del	GRCh38
NC_000002.11:g.215657138_215657140del , CM000664.1:g.215657138_215657140del	GRCh37
NC_000002.10:g.215365383_215365385del	NCBI36
NG_012047.2:g.22290_22292del
NG_012047.3:g.22297_22299del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.246_248del MANE Select	NP_000456.2:p.Cys83del
ENST00000260947.9:c.246_248del MANE Select	ENSP00000260947.4:p.Cys83del
NM_000465.3:c.246_248del	NP_000456.2:p.Cys83del
NM_001282543.1:c.189_191del	NP_001269472.1:p.Cys64del
NM_001282543.2:c.189_191del	NP_001269472.1:p.Cys64del
NM_001282545.1:c.215+4646_215+4648del	NP_001269474.1:n.215+4646_215+4648del
NM_001282545.2:c.215+4646_215+4648del	NP_001269474.1:n.215+4646_215+4648del
NM_001282548.1:c.158+16997_158+16999del	NP_001269477.1:n.158+16997_158+16999del
NM_001282548.2:c.158+16997_158+16999del	NP_001269477.1:n.158+16997_158+16999del
NM_001282549.1:c.246_248del	NP_001269478.1:p.Cys83del
NM_001282549.2:c.246_248del	NP_001269478.1:p.Cys83del
NR_104212.1:n.357+4646_357+4648del
NR_104212.2:n.329+4646_329+4648del
NR_104215.1:n.301-10906_301-10904del
NR_104215.2:n.273-10906_273-10904del
NR_104216.1:n.388_390del
NR_104216.2:n.360_362del
ENST00000260947.8:c.246_248del	ENSP00000260947.4:p.Cys83del
ENST00000421162.1:c.215+4646_215+4648del	ENSP00000392245.1:n.215+4646_215+4648del
ENST00000421162.2:c.215+4646_215+4648del	ENSP00000392245.2:n.215+4646_215+4648del
ENST00000455743.5:c.215+4646_215+4648del	ENSP00000412186.1:n.215+4646_215+4648del
ENST00000471787.1:n.260-10906_260-10904del
ENST00000613192.1:c.73+16997_73+16999del	ENSP00000483275.1:n.73+16997_73+16999del
ENST00000613192.2:c.158+16997_158+16999del	ENSP00000483275.2:n.158+16997_158+16999del
ENST00000613374.4:c.158+16997_158+16999del	ENSP00000484464.1:n.158+16997_158+16999del
ENST00000613374.5:c.158+16997_158+16999del	ENSP00000484464.1:n.158+16997_158+16999del
ENST00000613706.4:c.215+4646_215+4648del	ENSP00000484976.1:n.215+4646_215+4648del
ENST00000613706.5:c.246_248del	ENSP00000484976.2:p.Cys83del
ENST00000617164.4:c.189_191del	ENSP00000480470.1:p.Cys64del
ENST00000617164.5:c.189_191del	ENSP00000480470.1:p.Cys64del
ENST00000619009.4:c.246_248del	ENSP00000482293.1:p.Cys83del
ENST00000619009.5:c.246_248del	ENSP00000482293.1:p.Cys83del
ENST00000620057.4:c.246_248del	ENSP00000481988.1:p.Cys83del
ENST00000650978.1:c.88_90del
XM_011511567.1:c.192_194del	XP_011509869.1:p.Cys65del
XM_011511568.1:c.246_248del	XP_011509870.1:p.Cys83del
XM_017004613.1:c.345_347del	XP_016860102.1:p.Cys116del
XM_017004614.1:c.345_347del	XP_016860103.1:p.Cys116del
XR_002959322.1:n.436_438del