Canonical Allele Identifier: CA331818

Gene: BARD1

Linked Data

• ClinVar Variation Id: 127725
• ClinVar RCV Id: RCV000115621 ; RCV000200198 ; RCV000486214 ; RCV000587422 ; RCV001535495
• dbSNP Id: rs587780024
• ExAC: 2:215595181 T / TCATACTTTTCTTCCTGTTCA
• gnomAD v2: 2-215595181-T-TCATACTTTTCTTCCTGTTCA
• gnomAD v3: 2-214730457-T-TCATACTTTTCTTCCTGTTCA
• gnomAD v4: 2-214730457-T-TCATACTTTTCTTCCTGTTCA
• MyVariant Identifiers: chr2:g.215595182_215595201dup20 (hg19) ; chr2:g.215595181_215595182insCATACTTTTCTTCCTGTTCA (hg19) ; chr2:g.214730458_214730477dup20 (hg38) ; chr2:g.214730457_214730458insCATACTTTTCTTCCTGTTCA (hg38)
• PubMed: PMID:20077502 ; PMID:21344236 ; PMID:25452441 ; PMID:26546047 ; PMID:26556299

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730471_214730490dup , CM000664.2:g.214730471_214730490dup	GRCh38
NC_000002.11:g.215595195_215595214dup , CM000664.1:g.215595195_215595214dup	GRCh37
NC_000002.10:g.215303440_215303459dup	NCBI36
NG_012047.2:g.84228_84247dup
NG_012047.3:g.84235_84254dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1935_1954dup MANE Select	ENSP00000260947.4:p.Glu652ValfsTer?
ENST00000421162.2:c.582_601dup	ENSP00000392245.2:p.Glu201ValfsTer?
ENST00000613192.2:c.190_*17dup	ENSP00000483275.2:n.190_*17dup
ENST00000613374.5:c.525_544dup	ENSP00000484464.1:p.Glu182ValfsTer?
ENST00000613706.5:c.1527_1546dup	ENSP00000484976.2:p.Glu516ValfsTer?
ENST00000617164.5:c.1878_1897dup	ENSP00000480470.1:p.Glu633ValfsTer?
ENST00000619009.5:c.396_415dup	ENSP00000482293.1:p.Glu139ValfsTer?
ENST00000650978.1:c.3310_3329dup
ENST00000260947.8:c.1935_1954dup	ENSP00000260947.4:p.Glu652ValfsTer?
ENST00000421162.1:c.582_601dup	ENSP00000392245.1:p.Glu201ValfsTer?
ENST00000432456.5:c.32_51dup
ENST00000455743.5:c.*1555_*1574dup	ENSP00000412186.1:n.*1555_*1574dup
ENST00000471590.5:n.270_289dup
ENST00000613192.1:c.105_124dup	ENSP00000483275.1:p.Glu42ValfsTer?
ENST00000613374.4:c.525_544dup	ENSP00000484464.1:p.Glu182ValfsTer?
ENST00000613706.4:c.582_601dup	ENSP00000484976.1:p.Glu201ValfsTer?
ENST00000617164.4:c.1878_1897dup	ENSP00000480470.1:p.Glu633ValfsTer?
ENST00000619009.4:c.396_415dup	ENSP00000482293.1:p.Glu139ValfsTer?
ENST00000620057.4:c.*601_*620dup	ENSP00000481988.1:n.*601_*620dup
NM_000465.3:c.1935_1954dup	NP_000456.2:p.Glu652ValfsTer?
NM_001282543.1:c.1878_1897dup	NP_001269472.1:p.Glu633ValfsTer?
NM_001282545.1:c.582_601dup	NP_001269474.1:p.Glu201ValfsTer?
NM_001282548.1:c.525_544dup	NP_001269477.1:p.Glu182ValfsTer?
NM_001282549.1:c.396_415dup	NP_001269478.1:p.Glu139ValfsTer?
NR_104212.1:n.1928_1947dup
NR_104215.1:n.1871_1890dup
NR_104216.1:n.1127_1146dup
XM_011511567.1:c.1881_1900dup	XP_011509869.1:p.Glu634ValfsTer?
XM_017004613.1:c.2034_2053dup	XP_016860102.1:p.Glu685ValfsTer?
XR_002959322.1:n.2125_2144dup
NM_000465.4:c.1935_1954dup MANE Select	NP_000456.2:p.Glu652ValfsTer?
NM_001282543.2:c.1878_1897dup	NP_001269472.1:p.Glu633ValfsTer?
NM_001282545.2:c.582_601dup	NP_001269474.1:p.Glu201ValfsTer?
NM_001282548.2:c.525_544dup	NP_001269477.1:p.Glu182ValfsTer?
NM_001282549.2:c.396_415dup	NP_001269478.1:p.Glu139ValfsTer?
NR_104212.2:n.1900_1919dup
NR_104215.2:n.1843_1862dup
NR_104216.2:n.1099_1118dup