Canonical Allele Identifier: CA3249308609

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728727_214728729del , CM000664.2:g.214728727_214728729del	GRCh38
NC_000002.11:g.215593451_215593453del , CM000664.1:g.215593451_215593453del	GRCh37
NC_000002.10:g.215301696_215301698del	NCBI36
NG_012047.2:g.85976_85978del
NG_012047.3:g.85983_85985del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.2281_2283del MANE Select	NP_000456.2:p.Ser761del
ENST00000260947.9:c.2281_2283del MANE Select	ENSP00000260947.4:p.Ser761del
NM_000465.3:c.2281_2283del	NP_000456.2:p.Ser761del
NM_001282543.1:c.2224_2226del	NP_001269472.1:p.Ser742del
NM_001282543.2:c.2224_2226del	NP_001269472.1:p.Ser742del
NM_001282545.1:c.928_930del	NP_001269474.1:p.Ser310del
NM_001282545.2:c.928_930del	NP_001269474.1:p.Ser310del
NM_001282548.1:c.871_873del	NP_001269477.1:p.Ser291del
NM_001282548.2:c.871_873del	NP_001269477.1:p.Ser291del
NM_001282549.1:c.742_744del	NP_001269478.1:p.Ser248del
NM_001282549.2:c.742_744del	NP_001269478.1:p.Ser248del
NR_104212.1:n.2274_2276del
NR_104212.2:n.2246_2248del
NR_104215.1:n.2217_2219del
NR_104215.2:n.2189_2191del
NR_104216.1:n.1473_1475del
NR_104216.2:n.1445_1447del
ENST00000260947.8:c.2281_2283del	ENSP00000260947.4:p.Ser761del
ENST00000421162.2:c.928_930del	ENSP00000392245.2:p.Ser310del
ENST00000432456.5:c.424_426del
ENST00000455743.5:c.*1901_*1903del	ENSP00000412186.1:n.*1901_*1903del
ENST00000471590.5:n.616_618del
ENST00000613192.1:c.451_453del	ENSP00000483275.1:p.Ser151del
ENST00000613192.2:c.*344_*346del	ENSP00000483275.2:n.*344_*346del
ENST00000613374.4:c.871_873del	ENSP00000484464.1:p.Ser291del
ENST00000613374.5:c.871_873del	ENSP00000484464.1:p.Ser291del
ENST00000613706.4:c.928_930del	ENSP00000484976.1:p.Ser310del
ENST00000613706.5:c.1873_1875del	ENSP00000484976.2:p.Ser625del
ENST00000617164.4:c.2224_2226del	ENSP00000480470.1:p.Ser742del
ENST00000617164.5:c.2224_2226del	ENSP00000480470.1:p.Ser742del
ENST00000619009.4:c.742_744del	ENSP00000482293.1:p.Ser248del
ENST00000619009.5:c.742_744del	ENSP00000482293.1:p.Ser248del
ENST00000620057.4:c.*947_*949del	ENSP00000481988.1:n.*947_*949del
ENST00000650978.1:c.3656_3658del
XM_011511567.1:c.2227_2229del	XP_011509869.1:p.Ser743del
XM_017004613.1:c.2380_2382del	XP_016860102.1:p.Ser794del
XR_002959322.1:n.2647_2649del