Canonical Allele Identifier: CA3249308792

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792316_214792318del , CM000664.2:g.214792316_214792318del	GRCh38
NC_000002.11:g.215657040_215657042del , CM000664.1:g.215657040_215657042del	GRCh37
NC_000002.10:g.215365285_215365287del	NCBI36
NG_012047.2:g.22388_22390del
NG_012047.3:g.22395_22397del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.344_346del MANE Select	NP_000456.2:p.Leu115del
ENST00000260947.9:c.344_346del MANE Select	ENSP00000260947.4:p.Leu115del
NM_000465.3:c.344_346del	NP_000456.2:p.Leu115del
NM_001282543.1:c.287_289del	NP_001269472.1:p.Leu96del
NM_001282543.2:c.287_289del	NP_001269472.1:p.Leu96del
NM_001282545.1:c.215+4744_215+4746del	NP_001269474.1:n.215+4744_215+4746del
NM_001282545.2:c.215+4744_215+4746del	NP_001269474.1:n.215+4744_215+4746del
NM_001282548.1:c.158+17095_158+17097del	NP_001269477.1:n.158+17095_158+17097del
NM_001282548.2:c.158+17095_158+17097del	NP_001269477.1:n.158+17095_158+17097del
NM_001282549.1:c.344_346del	NP_001269478.1:p.Leu115del
NM_001282549.2:c.344_346del	NP_001269478.1:p.Leu115del
NR_104212.1:n.357+4744_357+4746del
NR_104212.2:n.329+4744_329+4746del
NR_104215.1:n.301-10808_301-10806del
NR_104215.2:n.273-10808_273-10806del
NR_104216.1:n.486_488del
NR_104216.2:n.458_460del
ENST00000260947.8:c.344_346del	ENSP00000260947.4:p.Leu115del
ENST00000421162.1:c.215+4744_215+4746del	ENSP00000392245.1:n.215+4744_215+4746del
ENST00000421162.2:c.215+4744_215+4746del	ENSP00000392245.2:n.215+4744_215+4746del
ENST00000455743.5:c.215+4744_215+4746del	ENSP00000412186.1:n.215+4744_215+4746del
ENST00000471787.1:n.260-10808_260-10806del
ENST00000613192.1:c.73+17095_73+17097del	ENSP00000483275.1:n.73+17095_73+17097del
ENST00000613192.2:c.158+17095_158+17097del	ENSP00000483275.2:n.158+17095_158+17097del
ENST00000613374.4:c.158+17095_158+17097del	ENSP00000484464.1:n.158+17095_158+17097del
ENST00000613374.5:c.158+17095_158+17097del	ENSP00000484464.1:n.158+17095_158+17097del
ENST00000613706.4:c.215+4744_215+4746del	ENSP00000484976.1:n.215+4744_215+4746del
ENST00000613706.5:c.344_346del	ENSP00000484976.2:p.Leu115del
ENST00000617164.4:c.287_289del	ENSP00000480470.1:p.Leu96del
ENST00000617164.5:c.287_289del	ENSP00000480470.1:p.Leu96del
ENST00000619009.4:c.344_346del	ENSP00000482293.1:p.Leu115del
ENST00000619009.5:c.344_346del	ENSP00000482293.1:p.Leu115del
ENST00000620057.4:c.344_346del	ENSP00000481988.1:p.Leu115del
ENST00000650978.1:c.186_188del
XM_011511567.1:c.290_292del	XP_011509869.1:p.Leu97del
XM_011511568.1:c.344_346del	XP_011509870.1:p.Leu115del
XM_017004613.1:c.443_445del	XP_016860102.1:p.Leu148del
XM_017004614.1:c.443_445del	XP_016860103.1:p.Leu148del
XR_002959322.1:n.534_536del