Canonical Allele Identifier: CA658657214

Gene: BARD1

Linked Data

• ClinVar Variation Id: 479165
• ClinVar RCV Id: RCV000571366
• dbSNP Id: rs1553624776
• MyVariant Identifiers: chr2:g.215657096_215657098del (hg19) ; chr2:g.214792372_214792374del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792374_214792376del , CM000664.2:g.214792374_214792376del	GRCh38
NC_000002.11:g.215657098_215657100del , CM000664.1:g.215657098_215657100del	GRCh37
NC_000002.10:g.215365343_215365345del	NCBI36
NG_012047.2:g.22331_22333del
NG_012047.3:g.22338_22340del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.287_289del MANE Select	ENSP00000260947.4:p.Lys96del
ENST00000421162.2:c.215+4687_215+4689del	ENSP00000392245.2:n.215+4687_215+4689del
ENST00000613192.2:c.158+17038_158+17040del	ENSP00000483275.2:n.158+17038_158+17040de...
ENST00000613374.5:c.158+17038_158+17040del	ENSP00000484464.1:n.158+17038_158+17040de...
ENST00000613706.5:c.287_289del	ENSP00000484976.2:p.Lys96del
ENST00000617164.5:c.230_232del	ENSP00000480470.1:p.Lys77del
ENST00000619009.5:c.287_289del	ENSP00000482293.1:p.Lys96del
ENST00000650978.1:c.129_131del
ENST00000260947.8:c.287_289del	ENSP00000260947.4:p.Lys96del
ENST00000421162.1:c.215+4687_215+4689del	ENSP00000392245.1:n.215+4687_215+4689del
ENST00000455743.5:c.215+4687_215+4689del	ENSP00000412186.1:n.215+4687_215+4689del
ENST00000471787.1:n.260-10865_260-10863del
ENST00000613192.1:c.73+17038_73+17040del	ENSP00000483275.1:n.73+17038_73+17040del
ENST00000613374.4:c.158+17038_158+17040del	ENSP00000484464.1:n.158+17038_158+17040de...
ENST00000613706.4:c.215+4687_215+4689del	ENSP00000484976.1:n.215+4687_215+4689del
ENST00000617164.4:c.230_232del	ENSP00000480470.1:p.Lys77del
ENST00000619009.4:c.287_289del	ENSP00000482293.1:p.Lys96del
ENST00000620057.4:c.287_289del	ENSP00000481988.1:p.Lys96del
NM_000465.3:c.287_289del	NP_000456.2:p.Lys96del
NM_001282543.1:c.230_232del	NP_001269472.1:p.Lys77del
NM_001282545.1:c.215+4687_215+4689del	NP_001269474.1:n.215+4687_215+4689del
NM_001282548.1:c.158+17038_158+17040del	NP_001269477.1:n.158+17038_158+17040del
NM_001282549.1:c.287_289del	NP_001269478.1:p.Lys96del
NR_104212.1:n.357+4687_357+4689del
NR_104215.1:n.301-10865_301-10863del
NR_104216.1:n.429_431del
XM_011511567.1:c.233_235del	XP_011509869.1:p.Lys78del
XM_011511568.1:c.287_289del	XP_011509870.1:p.Lys96del
XM_017004613.1:c.386_388del	XP_016860102.1:p.Lys129del
XM_017004614.1:c.386_388del	XP_016860103.1:p.Lys129del
XR_002959322.1:n.477_479del
NM_000465.4:c.287_289del MANE Select	NP_000456.2:p.Lys96del
NM_001282543.2:c.230_232del	NP_001269472.1:p.Lys77del
NM_001282545.2:c.215+4687_215+4689del	NP_001269474.1:n.215+4687_215+4689del
NM_001282548.2:c.158+17038_158+17040del	NP_001269477.1:n.158+17038_158+17040del
NM_001282549.2:c.287_289del	NP_001269478.1:p.Lys96del
NR_104212.2:n.329+4687_329+4689del
NR_104215.2:n.273-10865_273-10863del
NR_104216.2:n.401_403del