Canonical Allele Identifier: CA915941704

Gene: BARD1

Linked Data

• ClinVar Variation Id: 821073
• ClinVar RCV Id: RCV001015138
• dbSNP Id: rs1574701652

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728702dup , CM000664.2:g.214728702dup	GRCh38
NC_000002.11:g.215593426dup , CM000664.1:g.215593426dup	GRCh37
NC_000002.10:g.215301671dup	NCBI36
NG_012047.2:g.86005dup
NG_012047.3:g.86012dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2310dup MANE Select	ENSP00000260947.4:p.Glu771Ter
ENST00000421162.2:c.957dup	ENSP00000392245.2:p.Glu320Ter
ENST00000613192.2:c.*373dup	ENSP00000483275.2:n.*373dup
ENST00000613374.5:c.900dup	ENSP00000484464.1:p.Glu301Ter
ENST00000613706.5:c.1902dup	ENSP00000484976.2:p.Glu635Ter
ENST00000617164.5:c.2253dup	ENSP00000480470.1:p.Glu752Ter
ENST00000619009.5:c.771dup	ENSP00000482293.1:p.Glu258Ter
ENST00000650978.1:c.3685dup
ENST00000260947.8:c.2310dup	ENSP00000260947.4:p.Glu771Ter
ENST00000432456.5:c.453dup
ENST00000471590.5:n.645dup
ENST00000613192.1:c.480dup	ENSP00000483275.1:p.Glu161Ter
ENST00000613374.4:c.900dup	ENSP00000484464.1:p.Glu301Ter
ENST00000613706.4:c.957dup	ENSP00000484976.1:p.Glu320Ter
ENST00000617164.4:c.2253dup	ENSP00000480470.1:p.Glu752Ter
ENST00000619009.4:c.771dup	ENSP00000482293.1:p.Glu258Ter
ENST00000620057.4:c.*976dup	ENSP00000481988.1:n.*976dup
NM_000465.3:c.2310dup	NP_000456.2:p.Glu771Ter
NM_001282543.1:c.2253dup	NP_001269472.1:p.Glu752Ter
NM_001282545.1:c.957dup	NP_001269474.1:p.Glu320Ter
NM_001282548.1:c.900dup	NP_001269477.1:p.Glu301Ter
NM_001282549.1:c.771dup	NP_001269478.1:p.Glu258Ter
NR_104212.1:n.2303dup
NR_104215.1:n.2246dup
NR_104216.1:n.1502dup
XM_011511567.1:c.2256dup	XP_011509869.1:p.Glu753Ter
XM_017004613.1:c.2409dup	XP_016860102.1:p.Glu804Ter
XR_002959322.1:n.2676dup
NM_000465.4:c.2310dup MANE Select	NP_000456.2:p.Glu771Ter
NM_001282543.2:c.2253dup	NP_001269472.1:p.Glu752Ter
NM_001282545.2:c.957dup	NP_001269474.1:p.Glu320Ter
NM_001282548.2:c.900dup	NP_001269477.1:p.Glu301Ter
NM_001282549.2:c.771dup	NP_001269478.1:p.Glu258Ter
NR_104212.2:n.2275dup
NR_104215.2:n.2218dup
NR_104216.2:n.1474dup