Canonical Allele Identifier: CA090905

Gene: BARD1

Linked Data

• ClinVar Variation Id: 140795
• ClinVar RCV Id: RCV000128959 ; RCV000197321 ; RCV000506514 ; RCV001711296 ; RCV002225421
• dbSNP Id: rs28997575
• ExAC: 2:215645502 GTGGTGAAGAACATTCAGGCAA / G
• gnomAD v2: 2-215645502-GTGGTGAAGAACATTCAGGCAA-G
• gnomAD v3: 2-214780778-GTGGTGAAGAACATTCAGGCAA-G
• gnomAD v4: 2-214780778-GTGGTGAAGAACATTCAGGCAA-G
• COSMIC: COSM1683894 ; COSM1683895
• MyVariant Identifiers: chr2:g.215645503_215645523del (hg19) ; chr2:g.214780779_214780799del (hg38)
• PubMed: PMID:9425226 ; PMID:11807980 ; PMID:14550946 ; PMID:17972171 ; PMID:20077502 ; PMID:20842729 ; PMID:26738429

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780783_214780803del , CM000664.2:g.214780783_214780803del	GRCh38
NC_000002.11:g.215645507_215645527del , CM000664.1:g.215645507_215645527del	GRCh37
NC_000002.10:g.215353752_215353772del	NCBI36
NG_012047.2:g.33906_33926del
NG_012047.3:g.33913_33933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1075_1095del MANE Select	ENSP00000260947.4:p.Leu359_Pro365del
ENST00000421162.2:c.215+16262_215+16282del	ENSP00000392245.2:n.215+16262_215+16282del
ENST00000613192.2:c.158+28613_158+28633del	ENSP00000483275.2:n.158+28613_158+28633del
ENST00000613374.5:c.159-28244_159-28224del	ENSP00000484464.1:n.159-28244_159-28224del
ENST00000613706.5:c.906+169_906+189del	ENSP00000484976.2:n.906+169_906+189del
ENST00000617164.5:c.1018_1038del	ENSP00000480470.1:p.Leu340_Pro346del
ENST00000619009.5:c.364+11498_364+11518del	ENSP00000482293.1:n.364+11498_364+11518del
ENST00000650978.1:c.917_937del
ENST00000260947.8:c.1075_1095del	ENSP00000260947.4:p.Leu359_Pro365del
ENST00000421162.1:c.215+16262_215+16282del	ENSP00000392245.1:n.215+16262_215+16282del
ENST00000455743.5:c.*695_*715del	ENSP00000412186.1:n.*695_*715del
ENST00000613192.1:c.73+28613_73+28633del	ENSP00000483275.1:n.73+28613_73+28633del
ENST00000613374.4:c.159-28244_159-28224del	ENSP00000484464.1:n.159-28244_159-28224del
ENST00000613706.4:c.215+16262_215+16282del	ENSP00000484976.1:n.215+16262_215+16282del
ENST00000617164.4:c.1018_1038del	ENSP00000480470.1:p.Leu340_Pro346del
ENST00000619009.4:c.364+11498_364+11518del	ENSP00000482293.1:n.364+11498_364+11518del
ENST00000620057.4:c.365-11487_365-11467del	ENSP00000481988.1:n.365-11487_365-11467del
NM_000465.3:c.1075_1095del	NP_000456.2:p.Leu359_Pro365del
NM_001282543.1:c.1018_1038del	NP_001269472.1:p.Leu340_Pro346del
NM_001282545.1:c.215+16262_215+16282del	NP_001269474.1:n.215+16262_215+16282del
NM_001282548.1:c.159-28244_159-28224del	NP_001269477.1:n.159-28244_159-28224del
NM_001282549.1:c.364+11498_364+11518del	NP_001269478.1:n.364+11498_364+11518del
NR_104212.1:n.1068_1088del
NR_104215.1:n.1011_1031del
NR_104216.1:n.507-11487_507-11467del
XM_011511567.1:c.1021_1041del	XP_011509869.1:p.Leu341_Pro347del
XM_011511568.1:c.1075_1095del	XP_011509870.1:p.Leu359_Pro365del
XM_017004613.1:c.1174_1194del	XP_016860102.1:p.Leu392_Pro398del
XM_017004614.1:c.1174_1194del	XP_016860103.1:p.Leu392_Pro398del
XR_002959322.1:n.1265_1285del
NM_000465.4:c.1075_1095del MANE Select	NP_000456.2:p.Leu359_Pro365del
NM_001282543.2:c.1018_1038del	NP_001269472.1:p.Leu340_Pro346del
NM_001282545.2:c.215+16262_215+16282del	NP_001269474.1:n.215+16262_215+16282del
NM_001282548.2:c.159-28244_159-28224del	NP_001269477.1:n.159-28244_159-28224del
NM_001282549.2:c.364+11498_364+11518del	NP_001269478.1:n.364+11498_364+11518del
NR_104212.2:n.1040_1060del
NR_104215.2:n.983_1003del
NR_104216.2:n.479-11487_479-11467del