Canonical Allele Identifier: CA2662960717

Gene: BARD1

Linked Data

• gnomAD v4: 2-214780738-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780742_214780744del , CM000664.2:g.214780742_214780744del	GRCh38
NC_000002.11:g.215645466_215645468del , CM000664.1:g.215645466_215645468del	GRCh37
NC_000002.10:g.215353711_215353713del	NCBI36
NG_012047.2:g.33964_33966del
NG_012047.3:g.33971_33973del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1133_1135del MANE Select	ENSP00000260947.4:p.Arg378del
ENST00000421162.2:c.215+16320_215+16322del	ENSP00000392245.2:n.215+16320_215+16322del
ENST00000613192.2:c.158+28671_158+28673del	ENSP00000483275.2:n.158+28671_158+28673del
ENST00000613374.5:c.159-28186_159-28184del	ENSP00000484464.1:n.159-28186_159-28184del
ENST00000613706.5:c.906+227_906+229del	ENSP00000484976.2:n.906+227_906+229del
ENST00000617164.5:c.1076_1078del	ENSP00000480470.1:p.Arg359del
ENST00000619009.5:c.364+11556_364+11558del	ENSP00000482293.1:n.364+11556_364+11558del
ENST00000650978.1:c.975_977del
ENST00000260947.8:c.1133_1135del	ENSP00000260947.4:p.Arg378del
ENST00000421162.1:c.215+16320_215+16322del	ENSP00000392245.1:n.215+16320_215+16322del
ENST00000455743.5:c.*753_*755del	ENSP00000412186.1:n.*753_*755del
ENST00000613192.1:c.73+28671_73+28673del	ENSP00000483275.1:n.73+28671_73+28673del
ENST00000613374.4:c.159-28186_159-28184del	ENSP00000484464.1:n.159-28186_159-28184del
ENST00000613706.4:c.215+16320_215+16322del	ENSP00000484976.1:n.215+16320_215+16322del
ENST00000617164.4:c.1076_1078del	ENSP00000480470.1:p.Arg359del
ENST00000619009.4:c.364+11556_364+11558del	ENSP00000482293.1:n.364+11556_364+11558del
ENST00000620057.4:c.365-11429_365-11427del	ENSP00000481988.1:n.365-11429_365-11427del
NM_000465.3:c.1133_1135del	NP_000456.2:p.Arg378del
NM_001282543.1:c.1076_1078del	NP_001269472.1:p.Arg359del
NM_001282545.1:c.215+16320_215+16322del	NP_001269474.1:n.215+16320_215+16322del
NM_001282548.1:c.159-28186_159-28184del	NP_001269477.1:n.159-28186_159-28184del
NM_001282549.1:c.364+11556_364+11558del	NP_001269478.1:n.364+11556_364+11558del
NR_104212.1:n.1126_1128del
NR_104215.1:n.1069_1071del
NR_104216.1:n.507-11429_507-11427del
XM_011511567.1:c.1079_1081del	XP_011509869.1:p.Arg360del
XM_011511568.1:c.1133_1135del	XP_011509870.1:p.Arg378del
XM_017004613.1:c.1232_1234del	XP_016860102.1:p.Arg411del
XM_017004614.1:c.1232_1234del	XP_016860103.1:p.Arg411del
XR_002959322.1:n.1323_1325del
NM_000465.4:c.1133_1135del MANE Select	NP_000456.2:p.Arg378del
NM_001282543.2:c.1076_1078del	NP_001269472.1:p.Arg359del
NM_001282545.2:c.215+16320_215+16322del	NP_001269474.1:n.215+16320_215+16322del
NM_001282548.2:c.159-28186_159-28184del	NP_001269477.1:n.159-28186_159-28184del
NM_001282549.2:c.364+11556_364+11558del	NP_001269478.1:n.364+11556_364+11558del
NR_104212.2:n.1098_1100del
NR_104215.2:n.1041_1043del
NR_104216.2:n.479-11429_479-11427del