Canonical Allele Identifier: CA3249309960

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792417_214792419del , CM000664.2:g.214792417_214792419del	GRCh38
NC_000002.11:g.215657141_215657143del , CM000664.1:g.215657141_215657143del	GRCh37
NC_000002.10:g.215365386_215365388del	NCBI36
NG_012047.2:g.22286_22288del
NG_012047.3:g.22293_22295del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.242_244del MANE Select	NP_000456.2:p.Thr81_Gly82delinsArg
ENST00000260947.9:c.242_244del MANE Select	ENSP00000260947.4:p.Thr81_Gly82delinsArg
NM_000465.3:c.242_244del	NP_000456.2:p.Thr81_Gly82delinsArg
NM_001282543.1:c.185_187del	NP_001269472.1:p.Thr62_Gly63delinsArg
NM_001282543.2:c.185_187del	NP_001269472.1:p.Thr62_Gly63delinsArg
NM_001282545.1:c.215+4642_215+4644del	NP_001269474.1:n.215+4642_215+4644del
NM_001282545.2:c.215+4642_215+4644del	NP_001269474.1:n.215+4642_215+4644del
NM_001282548.1:c.158+16993_158+16995del	NP_001269477.1:n.158+16993_158+16995del
NM_001282548.2:c.158+16993_158+16995del	NP_001269477.1:n.158+16993_158+16995del
NM_001282549.1:c.242_244del	NP_001269478.1:p.Thr81_Gly82delinsArg
NM_001282549.2:c.242_244del	NP_001269478.1:p.Thr81_Gly82delinsArg
NR_104212.1:n.357+4642_357+4644del
NR_104212.2:n.329+4642_329+4644del
NR_104215.1:n.301-10910_301-10908del
NR_104215.2:n.273-10910_273-10908del
NR_104216.1:n.384_386del
NR_104216.2:n.356_358del
ENST00000260947.8:c.242_244del	ENSP00000260947.4:p.Thr81_Gly82delinsArg
ENST00000421162.1:c.215+4642_215+4644del	ENSP00000392245.1:n.215+4642_215+4644del
ENST00000421162.2:c.215+4642_215+4644del	ENSP00000392245.2:n.215+4642_215+4644del
ENST00000455743.5:c.215+4642_215+4644del	ENSP00000412186.1:n.215+4642_215+4644del
ENST00000471787.1:n.260-10910_260-10908del
ENST00000613192.1:c.73+16993_73+16995del	ENSP00000483275.1:n.73+16993_73+16995del
ENST00000613192.2:c.158+16993_158+16995del	ENSP00000483275.2:n.158+16993_158+16995del
ENST00000613374.4:c.158+16993_158+16995del	ENSP00000484464.1:n.158+16993_158+16995del
ENST00000613374.5:c.158+16993_158+16995del	ENSP00000484464.1:n.158+16993_158+16995del
ENST00000613706.4:c.215+4642_215+4644del	ENSP00000484976.1:n.215+4642_215+4644del
ENST00000613706.5:c.242_244del	ENSP00000484976.2:p.Thr81_Gly82delinsArg
ENST00000617164.4:c.185_187del	ENSP00000480470.1:p.Thr62_Gly63delinsArg
ENST00000617164.5:c.185_187del	ENSP00000480470.1:p.Thr62_Gly63delinsArg
ENST00000619009.4:c.242_244del	ENSP00000482293.1:p.Thr81_Gly82delinsArg
ENST00000619009.5:c.242_244del	ENSP00000482293.1:p.Thr81_Gly82delinsArg
ENST00000620057.4:c.242_244del	ENSP00000481988.1:p.Thr81_Gly82delinsArg
ENST00000650978.1:c.84_86del
XM_011511567.1:c.188_190del	XP_011509869.1:p.Thr63_Gly64delinsArg
XM_011511568.1:c.242_244del	XP_011509870.1:p.Thr81_Gly82delinsArg
XM_017004613.1:c.341_343del	XP_016860102.1:p.Thr114_Gly115delinsArg
XM_017004614.1:c.341_343del	XP_016860103.1:p.Thr114_Gly115delinsArg
XR_002959322.1:n.432_434del