Canonical Allele Identifier: CA3249308623

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728728_214728730del , CM000664.2:g.214728728_214728730del	GRCh38
NC_000002.11:g.215593452_215593454del , CM000664.1:g.215593452_215593454del	GRCh37
NC_000002.10:g.215301697_215301699del	NCBI36
NG_012047.2:g.85975_85977del
NG_012047.3:g.85982_85984del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.2280_2282del MANE Select	NP_000456.2:p.Ser761del
ENST00000260947.9:c.2280_2282del MANE Select	ENSP00000260947.4:p.Ser761del
NM_000465.3:c.2280_2282del	NP_000456.2:p.Ser761del
NM_001282543.1:c.2223_2225del	NP_001269472.1:p.Ser742del
NM_001282543.2:c.2223_2225del	NP_001269472.1:p.Ser742del
NM_001282545.1:c.927_929del	NP_001269474.1:p.Ser310del
NM_001282545.2:c.927_929del	NP_001269474.1:p.Ser310del
NM_001282548.1:c.870_872del	NP_001269477.1:p.Ser291del
NM_001282548.2:c.870_872del	NP_001269477.1:p.Ser291del
NM_001282549.1:c.741_743del	NP_001269478.1:p.Ser248del
NM_001282549.2:c.741_743del	NP_001269478.1:p.Ser248del
NR_104212.1:n.2273_2275del
NR_104212.2:n.2245_2247del
NR_104215.1:n.2216_2218del
NR_104215.2:n.2188_2190del
NR_104216.1:n.1472_1474del
NR_104216.2:n.1444_1446del
ENST00000260947.8:c.2280_2282del	ENSP00000260947.4:p.Ser761del
ENST00000421162.2:c.927_929del	ENSP00000392245.2:p.Ser310del
ENST00000432456.5:c.423_425del
ENST00000455743.5:c.*1900_*1902del	ENSP00000412186.1:n.*1900_*1902del
ENST00000471590.5:n.615_617del
ENST00000613192.1:c.450_452del	ENSP00000483275.1:p.Ser151del
ENST00000613192.2:c.*343_*345del	ENSP00000483275.2:n.*343_*345del
ENST00000613374.4:c.870_872del	ENSP00000484464.1:p.Ser291del
ENST00000613374.5:c.870_872del	ENSP00000484464.1:p.Ser291del
ENST00000613706.4:c.927_929del	ENSP00000484976.1:p.Ser310del
ENST00000613706.5:c.1872_1874del	ENSP00000484976.2:p.Ser625del
ENST00000617164.4:c.2223_2225del	ENSP00000480470.1:p.Ser742del
ENST00000617164.5:c.2223_2225del	ENSP00000480470.1:p.Ser742del
ENST00000619009.4:c.741_743del	ENSP00000482293.1:p.Ser248del
ENST00000619009.5:c.741_743del	ENSP00000482293.1:p.Ser248del
ENST00000620057.4:c.*946_*948del	ENSP00000481988.1:n.*946_*948del
ENST00000650978.1:c.3655_3657del
XM_011511567.1:c.2226_2228del	XP_011509869.1:p.Ser743del
XM_017004613.1:c.2379_2381del	XP_016860102.1:p.Ser794del
XR_002959322.1:n.2646_2648del