Canonical Allele Identifier: CA1139655695

Gene: BARD1

Linked Data

• ClinVar Variation Id: 947071
• ClinVar RCV Id: RCV001218062
• dbSNP Id: rs1694939793

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780598_214780600del , CM000664.2:g.214780598_214780600del	GRCh38
NC_000002.11:g.215645322_215645324del , CM000664.1:g.215645322_215645324del	GRCh37
NC_000002.10:g.215353567_215353569del	NCBI36
NG_012047.2:g.34107_34109del
NG_012047.3:g.34114_34116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1276_1278del MANE Select	ENSP00000260947.4:p.His426del
ENST00000421162.2:c.215+16463_215+16465del	ENSP00000392245.2:n.215+16463_215+16465del
ENST00000613192.2:c.158+28814_158+28816del	ENSP00000483275.2:n.158+28814_158+28816del
ENST00000613374.5:c.159-28043_159-28041del	ENSP00000484464.1:n.159-28043_159-28041del
ENST00000613706.5:c.906+370_906+372del	ENSP00000484976.2:n.906+370_906+372del
ENST00000617164.5:c.1219_1221del	ENSP00000480470.1:p.His407del
ENST00000619009.5:c.364+11699_364+11701del	ENSP00000482293.1:n.364+11699_364+11701del
ENST00000650978.1:c.1118_1120del
ENST00000260947.8:c.1276_1278del	ENSP00000260947.4:p.His426del
ENST00000421162.1:c.215+16463_215+16465del	ENSP00000392245.1:n.215+16463_215+16465del
ENST00000455743.5:c.*896_*898del	ENSP00000412186.1:n.*896_*898del
ENST00000613192.1:c.73+28814_73+28816del	ENSP00000483275.1:n.73+28814_73+28816del
ENST00000613374.4:c.159-28043_159-28041del	ENSP00000484464.1:n.159-28043_159-28041del
ENST00000613706.4:c.215+16463_215+16465del	ENSP00000484976.1:n.215+16463_215+16465del
ENST00000617164.4:c.1219_1221del	ENSP00000480470.1:p.His407del
ENST00000619009.4:c.364+11699_364+11701del	ENSP00000482293.1:n.364+11699_364+11701del
ENST00000620057.4:c.365-11286_365-11284del	ENSP00000481988.1:n.365-11286_365-11284del
NM_000465.3:c.1276_1278del	NP_000456.2:p.His426del
NM_001282543.1:c.1219_1221del	NP_001269472.1:p.His407del
NM_001282545.1:c.215+16463_215+16465del	NP_001269474.1:n.215+16463_215+16465del
NM_001282548.1:c.159-28043_159-28041del	NP_001269477.1:n.159-28043_159-28041del
NM_001282549.1:c.364+11699_364+11701del	NP_001269478.1:n.364+11699_364+11701del
NR_104212.1:n.1269_1271del
NR_104215.1:n.1212_1214del
NR_104216.1:n.507-11286_507-11284del
XM_011511567.1:c.1222_1224del	XP_011509869.1:p.His408del
XM_011511568.1:c.1276_1278del	XP_011509870.1:p.His426del
XM_017004613.1:c.1375_1377del	XP_016860102.1:p.His459del
XM_017004614.1:c.1375_1377del	XP_016860103.1:p.His459del
XR_002959322.1:n.1466_1468del
NM_000465.4:c.1276_1278del MANE Select	NP_000456.2:p.His426del
NM_001282543.2:c.1219_1221del	NP_001269472.1:p.His407del
NM_001282545.2:c.215+16463_215+16465del	NP_001269474.1:n.215+16463_215+16465del
NM_001282548.2:c.159-28043_159-28041del	NP_001269477.1:n.159-28043_159-28041del
NM_001282549.2:c.364+11699_364+11701del	NP_001269478.1:n.364+11699_364+11701del
NR_104212.2:n.1241_1243del
NR_104215.2:n.1184_1186del
NR_104216.2:n.479-11286_479-11284del