Canonical Allele Identifier: CA3249309966

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792418_214792420del , CM000664.2:g.214792418_214792420del	GRCh38
NC_000002.11:g.215657142_215657144del , CM000664.1:g.215657142_215657144del	GRCh37
NC_000002.10:g.215365387_215365389del	NCBI36
NG_012047.2:g.22285_22287del
NG_012047.3:g.22292_22294del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.241_243del MANE Select	NP_000456.2:p.Thr81del
ENST00000260947.9:c.241_243del MANE Select	ENSP00000260947.4:p.Thr81del
NM_000465.3:c.241_243del	NP_000456.2:p.Thr81del
NM_001282543.1:c.184_186del	NP_001269472.1:p.Thr62del
NM_001282543.2:c.184_186del	NP_001269472.1:p.Thr62del
NM_001282545.1:c.215+4641_215+4643del	NP_001269474.1:n.215+4641_215+4643del
NM_001282545.2:c.215+4641_215+4643del	NP_001269474.1:n.215+4641_215+4643del
NM_001282548.1:c.158+16992_158+16994del	NP_001269477.1:n.158+16992_158+16994del
NM_001282548.2:c.158+16992_158+16994del	NP_001269477.1:n.158+16992_158+16994del
NM_001282549.1:c.241_243del	NP_001269478.1:p.Thr81del
NM_001282549.2:c.241_243del	NP_001269478.1:p.Thr81del
NR_104212.1:n.357+4641_357+4643del
NR_104212.2:n.329+4641_329+4643del
NR_104215.1:n.301-10911_301-10909del
NR_104215.2:n.273-10911_273-10909del
NR_104216.1:n.383_385del
NR_104216.2:n.355_357del
ENST00000260947.8:c.241_243del	ENSP00000260947.4:p.Thr81del
ENST00000421162.1:c.215+4641_215+4643del	ENSP00000392245.1:n.215+4641_215+4643del
ENST00000421162.2:c.215+4641_215+4643del	ENSP00000392245.2:n.215+4641_215+4643del
ENST00000455743.5:c.215+4641_215+4643del	ENSP00000412186.1:n.215+4641_215+4643del
ENST00000471787.1:n.260-10911_260-10909del
ENST00000613192.1:c.73+16992_73+16994del	ENSP00000483275.1:n.73+16992_73+16994del
ENST00000613192.2:c.158+16992_158+16994del	ENSP00000483275.2:n.158+16992_158+16994del
ENST00000613374.4:c.158+16992_158+16994del	ENSP00000484464.1:n.158+16992_158+16994del
ENST00000613374.5:c.158+16992_158+16994del	ENSP00000484464.1:n.158+16992_158+16994del
ENST00000613706.4:c.215+4641_215+4643del	ENSP00000484976.1:n.215+4641_215+4643del
ENST00000613706.5:c.241_243del	ENSP00000484976.2:p.Thr81del
ENST00000617164.4:c.184_186del	ENSP00000480470.1:p.Thr62del
ENST00000617164.5:c.184_186del	ENSP00000480470.1:p.Thr62del
ENST00000619009.4:c.241_243del	ENSP00000482293.1:p.Thr81del
ENST00000619009.5:c.241_243del	ENSP00000482293.1:p.Thr81del
ENST00000620057.4:c.241_243del	ENSP00000481988.1:p.Thr81del
ENST00000650978.1:c.83_85del
XM_011511567.1:c.187_189del	XP_011509869.1:p.Thr63del
XM_011511568.1:c.241_243del	XP_011509870.1:p.Thr81del
XM_017004613.1:c.340_342del	XP_016860102.1:p.Thr114del
XM_017004614.1:c.340_342del	XP_016860103.1:p.Thr114del
XR_002959322.1:n.431_433del