Canonical Allele Identifier: CA1139657667

Gene: BARD1

Linked Data

• ClinVar Variation Id: 992588
• ClinVar RCV Id: RCV001281082 ; RCV001524046
• dbSNP Id: rs1692195261

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728734_214728735delinsAT , CM000664.2:g.214728734_214728735delinsAT	GRCh38
NC_000002.11:g.215593458_215593459delinsAT , CM000664.1:g.215593458_215593459delinsAT	GRCh37
NC_000002.10:g.215301703_215301704delinsAT	NCBI36
NG_012047.2:g.85970_85971delinsAT
NG_012047.3:g.85977_85978delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2275_2276delinsAT MANE Select	ENSP00000260947.4:p.Pro759Ile
ENST00000421162.2:c.922_923delinsAT	ENSP00000392245.2:p.Pro308Ile
ENST00000613192.2:c.*338_*339delinsAT	ENSP00000483275.2:n.*338_*339delinsAT
ENST00000613374.5:c.865_866delinsAT	ENSP00000484464.1:p.Pro289Ile
ENST00000613706.5:c.1867_1868delinsAT	ENSP00000484976.2:p.Pro623Ile
ENST00000617164.5:c.2218_2219delinsAT	ENSP00000480470.1:p.Pro740Ile
ENST00000619009.5:c.736_737delinsAT	ENSP00000482293.1:p.Pro246Ile
ENST00000650978.1:c.3650_3651delinsAT
ENST00000260947.8:c.2275_2276delinsAT	ENSP00000260947.4:p.Pro759Ile
ENST00000432456.5:c.418_419delinsAT
ENST00000455743.5:c.*1895_*1896delinsAT	ENSP00000412186.1:n.*1895_*1896delinsAT
ENST00000471590.5:n.610_611delinsAT
ENST00000613192.1:c.445_446delinsAT	ENSP00000483275.1:p.Pro149Ile
ENST00000613374.4:c.865_866delinsAT	ENSP00000484464.1:p.Pro289Ile
ENST00000613706.4:c.922_923delinsAT	ENSP00000484976.1:p.Pro308Ile
ENST00000617164.4:c.2218_2219delinsAT	ENSP00000480470.1:p.Pro740Ile
ENST00000619009.4:c.736_737delinsAT	ENSP00000482293.1:p.Pro246Ile
ENST00000620057.4:c.*941_*942delinsAT	ENSP00000481988.1:n.*941_*942delinsAT
NM_000465.3:c.2275_2276delinsAT	NP_000456.2:p.Pro759Ile
NM_001282543.1:c.2218_2219delinsAT	NP_001269472.1:p.Pro740Ile
NM_001282545.1:c.922_923delinsAT	NP_001269474.1:p.Pro308Ile
NM_001282548.1:c.865_866delinsAT	NP_001269477.1:p.Pro289Ile
NM_001282549.1:c.736_737delinsAT	NP_001269478.1:p.Pro246Ile
NR_104212.1:n.2268_2269delinsAT
NR_104215.1:n.2211_2212delinsAT
NR_104216.1:n.1467_1468delinsAT
XM_011511567.1:c.2221_2222delinsAT	XP_011509869.1:p.Pro741Ile
XM_017004613.1:c.2374_2375delinsAT	XP_016860102.1:p.Pro792Ile
XR_002959322.1:n.2641_2642delinsAT
NM_000465.4:c.2275_2276delinsAT MANE Select	NP_000456.2:p.Pro759Ile
NM_001282543.2:c.2218_2219delinsAT	NP_001269472.1:p.Pro740Ile
NM_001282545.2:c.922_923delinsAT	NP_001269474.1:p.Pro308Ile
NM_001282548.2:c.865_866delinsAT	NP_001269477.1:p.Pro289Ile
NM_001282549.2:c.736_737delinsAT	NP_001269478.1:p.Pro246Ile
NR_104212.2:n.2240_2241delinsAT
NR_104215.2:n.2183_2184delinsAT
NR_104216.2:n.1439_1440delinsAT