Canonical Allele Identifier: CA2697550338

Gene: BARD1

Linked Data

• ClinVar Variation Id: 2767853
• ClinVar RCV Id: RCV003500402

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780726_214780727del , CM000664.2:g.214780726_214780727del	GRCh38
NC_000002.11:g.215645450_215645451del , CM000664.1:g.215645450_215645451del	GRCh37
NC_000002.10:g.215353695_215353696del	NCBI36
NG_012047.2:g.33978_33979del
NG_012047.3:g.33985_33986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1147_1148del MANE Select	ENSP00000260947.4:p.Met383ValfsTer3
ENST00000421162.2:c.215+16334_215+16335del	ENSP00000392245.2:n.215+16334_215+16335del
ENST00000613192.2:c.158+28685_158+28686del	ENSP00000483275.2:n.158+28685_158+28686del
ENST00000613374.5:c.159-28172_159-28171del	ENSP00000484464.1:n.159-28172_159-28171del
ENST00000613706.5:c.906+241_906+242del	ENSP00000484976.2:n.906+241_906+242del
ENST00000617164.5:c.1090_1091del	ENSP00000480470.1:p.Met364ValfsTer3
ENST00000619009.5:c.364+11570_364+11571del	ENSP00000482293.1:n.364+11570_364+11571del
ENST00000650978.1:c.989_990del
ENST00000260947.8:c.1147_1148del	ENSP00000260947.4:p.Met383ValfsTer3
ENST00000421162.1:c.215+16334_215+16335del	ENSP00000392245.1:n.215+16334_215+16335del
ENST00000455743.5:c.*767_*768del	ENSP00000412186.1:n.*767_*768del
ENST00000613192.1:c.73+28685_73+28686del	ENSP00000483275.1:n.73+28685_73+28686del
ENST00000613374.4:c.159-28172_159-28171del	ENSP00000484464.1:n.159-28172_159-28171del
ENST00000613706.4:c.215+16334_215+16335del	ENSP00000484976.1:n.215+16334_215+16335del
ENST00000617164.4:c.1090_1091del	ENSP00000480470.1:p.Met364ValfsTer3
ENST00000619009.4:c.364+11570_364+11571del	ENSP00000482293.1:n.364+11570_364+11571del
ENST00000620057.4:c.365-11415_365-11414del	ENSP00000481988.1:n.365-11415_365-11414del
NM_000465.3:c.1147_1148del	NP_000456.2:p.Met383ValfsTer3
NM_001282543.1:c.1090_1091del	NP_001269472.1:p.Met364ValfsTer3
NM_001282545.1:c.215+16334_215+16335del	NP_001269474.1:n.215+16334_215+16335del
NM_001282548.1:c.159-28172_159-28171del	NP_001269477.1:n.159-28172_159-28171del
NM_001282549.1:c.364+11570_364+11571del	NP_001269478.1:n.364+11570_364+11571del
NR_104212.1:n.1140_1141del
NR_104215.1:n.1083_1084del
NR_104216.1:n.507-11415_507-11414del
XM_011511567.1:c.1093_1094del	XP_011509869.1:p.Met365ValfsTer3
XM_011511568.1:c.1147_1148del	XP_011509870.1:p.Met383ValfsTer3
XM_017004613.1:c.1246_1247del	XP_016860102.1:p.Met416ValfsTer3
XM_017004614.1:c.1246_1247del	XP_016860103.1:p.Met416ValfsTer3
XR_002959322.1:n.1337_1338del
NM_000465.4:c.1147_1148del MANE Select	NP_000456.2:p.Met383ValfsTer3
NM_001282543.2:c.1090_1091del	NP_001269472.1:p.Met364ValfsTer3
NM_001282545.2:c.215+16334_215+16335del	NP_001269474.1:n.215+16334_215+16335del
NM_001282548.2:c.159-28172_159-28171del	NP_001269477.1:n.159-28172_159-28171del
NM_001282549.2:c.364+11570_364+11571del	NP_001269478.1:n.364+11570_364+11571del
NR_104212.2:n.1112_1113del
NR_104215.2:n.1055_1056del
NR_104216.2:n.479-11415_479-11414del