Canonical Allele Identifier: CA764552773

Gene: BARD1

Linked Data

• dbSNP Id: rs1275796264
• MyVariant Identifiers: chr2:g.215656826_215656828del (hg19) ; chr2:g.214792102_214792104del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792104_214792106del , CM000664.2:g.214792104_214792106del	GRCh38
NC_000002.11:g.215656828_215656830del , CM000664.1:g.215656828_215656830del	GRCh37
NC_000002.10:g.215365073_215365075del	NCBI36
NG_012047.2:g.22601_22603del
NG_012047.3:g.22608_22610del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.364+193_364+195del MANE Select	ENSP00000260947.4:n.364+193_364+195del
ENST00000421162.2:c.215+4957_215+4959del	ENSP00000392245.2:n.215+4957_215+4959del
ENST00000613192.2:c.158+17308_158+17310del	ENSP00000483275.2:n.158+17308_158+17310del
ENST00000613374.5:c.158+17308_158+17310del	ENSP00000484464.1:n.158+17308_158+17310del
ENST00000613706.5:c.364+193_364+195del	ENSP00000484976.2:n.364+193_364+195del
ENST00000617164.5:c.307+193_307+195del	ENSP00000480470.1:n.307+193_307+195del
ENST00000619009.5:c.364+193_364+195del	ENSP00000482293.1:n.364+193_364+195del
ENST00000650978.1:c.206+193_206+195del
ENST00000260947.8:c.364+193_364+195del	ENSP00000260947.4:n.364+193_364+195del
ENST00000421162.1:c.215+4957_215+4959del	ENSP00000392245.1:n.215+4957_215+4959del
ENST00000455743.5:c.215+4957_215+4959del	ENSP00000412186.1:n.215+4957_215+4959del
ENST00000471787.1:n.260-10595_260-10593del
ENST00000613192.1:c.73+17308_73+17310del	ENSP00000483275.1:n.73+17308_73+17310del
ENST00000613374.4:c.158+17308_158+17310del	ENSP00000484464.1:n.158+17308_158+17310del
ENST00000613706.4:c.215+4957_215+4959del	ENSP00000484976.1:n.215+4957_215+4959del
ENST00000617164.4:c.307+193_307+195del	ENSP00000480470.1:n.307+193_307+195del
ENST00000619009.4:c.364+193_364+195del	ENSP00000482293.1:n.364+193_364+195del
ENST00000620057.4:c.364+193_364+195del	ENSP00000481988.1:n.364+193_364+195del
NM_000465.3:c.364+193_364+195del	NP_000456.2:n.364+193_364+195del
NM_001282543.1:c.307+193_307+195del	NP_001269472.1:n.307+193_307+195del
NM_001282545.1:c.215+4957_215+4959del	NP_001269474.1:n.215+4957_215+4959del
NM_001282548.1:c.158+17308_158+17310del	NP_001269477.1:n.158+17308_158+17310del
NM_001282549.1:c.364+193_364+195del	NP_001269478.1:n.364+193_364+195del
NR_104212.1:n.357+4957_357+4959del
NR_104215.1:n.301-10595_301-10593del
NR_104216.1:n.506+193_506+195del
XM_011511567.1:c.310+193_310+195del	XP_011509869.1:n.310+193_310+195del
XM_011511568.1:c.364+193_364+195del	XP_011509870.1:n.364+193_364+195del
XM_017004613.1:c.463+193_463+195del	XP_016860102.1:n.463+193_463+195del
XM_017004614.1:c.463+193_463+195del	XP_016860103.1:n.463+193_463+195del
XR_002959322.1:n.554+193_554+195del
NM_000465.4:c.364+193_364+195del MANE Select	NP_000456.2:n.364+193_364+195del
NM_001282543.2:c.307+193_307+195del	NP_001269472.1:n.307+193_307+195del
NM_001282545.2:c.215+4957_215+4959del	NP_001269474.1:n.215+4957_215+4959del
NM_001282548.2:c.158+17308_158+17310del	NP_001269477.1:n.158+17308_158+17310del
NM_001282549.2:c.364+193_364+195del	NP_001269478.1:n.364+193_364+195del
NR_104212.2:n.329+4957_329+4959del
NR_104215.2:n.273-10595_273-10593del
NR_104216.2:n.478+193_478+195del