Canonical Allele Identifier: CA10577777

Gene: BARD1

Linked Data

• ClinVar Variation Id: 231243
• ClinVar RCV Id: RCV000222835 ; RCV000556289
• dbSNP Id: rs876659046
• MyVariant Identifiers: chr2:g.215595190_215595191delinsAA (hg19) ; chr2:g.214730466_214730467delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730466_214730467delinsAA , CM000664.2:g.214730466_214730467delinsAA	GRCh38
NC_000002.11:g.215595190_215595191delinsAA , CM000664.1:g.215595190_215595191delinsAA	GRCh37
NC_000002.10:g.215303435_215303436delinsAA	NCBI36
NG_012047.2:g.84238_84239delinsTT
NG_012047.3:g.84245_84246delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1945_1946delinsTT MANE Select	ENSP00000260947.4:p.Glu649Leu
ENST00000421162.2:c.592_593delinsTT	ENSP00000392245.2:p.Glu198Leu
ENST00000613192.2:c.*8_*9delinsTT	ENSP00000483275.2:n.*8_*9delinsTT
ENST00000613374.5:c.535_536delinsTT	ENSP00000484464.1:p.Glu179Leu
ENST00000613706.5:c.1537_1538delinsTT	ENSP00000484976.2:p.Glu513Leu
ENST00000617164.5:c.1888_1889delinsTT	ENSP00000480470.1:p.Glu630Leu
ENST00000619009.5:c.406_407delinsTT	ENSP00000482293.1:p.Glu136Leu
ENST00000650978.1:c.3320_3321delinsTT
ENST00000260947.8:c.1945_1946delinsTT	ENSP00000260947.4:p.Glu649Leu
ENST00000421162.1:c.592_593delinsTT	ENSP00000392245.1:p.Glu198Leu
ENST00000432456.5:c.42_43delinsTT
ENST00000455743.5:c.*1565_*1566delinsTT	ENSP00000412186.1:n.*1565_*1566delinsTT
ENST00000471590.5:n.280_281delinsTT
ENST00000613192.1:c.115_116delinsTT	ENSP00000483275.1:p.Glu39Leu
ENST00000613374.4:c.535_536delinsTT	ENSP00000484464.1:p.Glu179Leu
ENST00000613706.4:c.592_593delinsTT	ENSP00000484976.1:p.Glu198Leu
ENST00000617164.4:c.1888_1889delinsTT	ENSP00000480470.1:p.Glu630Leu
ENST00000619009.4:c.406_407delinsTT	ENSP00000482293.1:p.Glu136Leu
ENST00000620057.4:c.*611_*612delinsTT	ENSP00000481988.1:n.*611_*612delinsTT
NM_000465.3:c.1945_1946delinsTT	NP_000456.2:p.Glu649Leu
NM_001282543.1:c.1888_1889delinsTT	NP_001269472.1:p.Glu630Leu
NM_001282545.1:c.592_593delinsTT	NP_001269474.1:p.Glu198Leu
NM_001282548.1:c.535_536delinsTT	NP_001269477.1:p.Glu179Leu
NM_001282549.1:c.406_407delinsTT	NP_001269478.1:p.Glu136Leu
NR_104212.1:n.1938_1939delinsTT
NR_104215.1:n.1881_1882delinsTT
NR_104216.1:n.1137_1138delinsTT
XM_011511567.1:c.1891_1892delinsTT	XP_011509869.1:p.Glu631Leu
XM_017004613.1:c.2044_2045delinsTT	XP_016860102.1:p.Glu682Leu
XR_002959322.1:n.2135_2136delinsTT
NM_000465.4:c.1945_1946delinsTT MANE Select	NP_000456.2:p.Glu649Leu
NM_001282543.2:c.1888_1889delinsTT	NP_001269472.1:p.Glu630Leu
NM_001282545.2:c.592_593delinsTT	NP_001269474.1:p.Glu198Leu
NM_001282548.2:c.535_536delinsTT	NP_001269477.1:p.Glu179Leu
NM_001282549.2:c.406_407delinsTT	NP_001269478.1:p.Glu136Leu
NR_104212.2:n.1910_1911delinsTT
NR_104215.2:n.1853_1854delinsTT
NR_104216.2:n.1109_1110delinsTT