Canonical Allele Identifier: CA3249308831

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792318_214792320del , CM000664.2:g.214792318_214792320del	GRCh38
NC_000002.11:g.215657042_215657044del , CM000664.1:g.215657042_215657044del	GRCh37
NC_000002.10:g.215365287_215365289del	NCBI36
NG_012047.2:g.22386_22388del
NG_012047.3:g.22393_22395del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.342_344del MANE Select	NP_000456.2:p.Leu115del
ENST00000260947.9:c.342_344del MANE Select	ENSP00000260947.4:p.Leu115del
NM_000465.3:c.342_344del	NP_000456.2:p.Leu115del
NM_001282543.1:c.285_287del	NP_001269472.1:p.Leu96del
NM_001282543.2:c.285_287del	NP_001269472.1:p.Leu96del
NM_001282545.1:c.215+4742_215+4744del	NP_001269474.1:n.215+4742_215+4744del
NM_001282545.2:c.215+4742_215+4744del	NP_001269474.1:n.215+4742_215+4744del
NM_001282548.1:c.158+17093_158+17095del	NP_001269477.1:n.158+17093_158+17095del
NM_001282548.2:c.158+17093_158+17095del	NP_001269477.1:n.158+17093_158+17095del
NM_001282549.1:c.342_344del	NP_001269478.1:p.Leu115del
NM_001282549.2:c.342_344del	NP_001269478.1:p.Leu115del
NR_104212.1:n.357+4742_357+4744del
NR_104212.2:n.329+4742_329+4744del
NR_104215.1:n.301-10810_301-10808del
NR_104215.2:n.273-10810_273-10808del
NR_104216.1:n.484_486del
NR_104216.2:n.456_458del
ENST00000260947.8:c.342_344del	ENSP00000260947.4:p.Leu115del
ENST00000421162.1:c.215+4742_215+4744del	ENSP00000392245.1:n.215+4742_215+4744del
ENST00000421162.2:c.215+4742_215+4744del	ENSP00000392245.2:n.215+4742_215+4744del
ENST00000455743.5:c.215+4742_215+4744del	ENSP00000412186.1:n.215+4742_215+4744del
ENST00000471787.1:n.260-10810_260-10808del
ENST00000613192.1:c.73+17093_73+17095del	ENSP00000483275.1:n.73+17093_73+17095del
ENST00000613192.2:c.158+17093_158+17095del	ENSP00000483275.2:n.158+17093_158+17095del
ENST00000613374.4:c.158+17093_158+17095del	ENSP00000484464.1:n.158+17093_158+17095del
ENST00000613374.5:c.158+17093_158+17095del	ENSP00000484464.1:n.158+17093_158+17095del
ENST00000613706.4:c.215+4742_215+4744del	ENSP00000484976.1:n.215+4742_215+4744del
ENST00000613706.5:c.342_344del	ENSP00000484976.2:p.Leu115del
ENST00000617164.4:c.285_287del	ENSP00000480470.1:p.Leu96del
ENST00000617164.5:c.285_287del	ENSP00000480470.1:p.Leu96del
ENST00000619009.4:c.342_344del	ENSP00000482293.1:p.Leu115del
ENST00000619009.5:c.342_344del	ENSP00000482293.1:p.Leu115del
ENST00000620057.4:c.342_344del	ENSP00000481988.1:p.Leu115del
ENST00000650978.1:c.184_186del
XM_011511567.1:c.288_290del	XP_011509869.1:p.Leu97del
XM_011511568.1:c.342_344del	XP_011509870.1:p.Leu115del
XM_017004613.1:c.441_443del	XP_016860102.1:p.Leu148del
XM_017004614.1:c.441_443del	XP_016860103.1:p.Leu148del
XR_002959322.1:n.532_534del