Canonical Allele Identifier: CA3249309942

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792412_214792414del , CM000664.2:g.214792412_214792414del	GRCh38
NC_000002.11:g.215657136_215657138del , CM000664.1:g.215657136_215657138del	GRCh37
NC_000002.10:g.215365381_215365383del	NCBI36
NG_012047.2:g.22291_22293del
NG_012047.3:g.22298_22300del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.247_249del MANE Select	NP_000456.2:p.Cys83del
ENST00000260947.9:c.247_249del MANE Select	ENSP00000260947.4:p.Cys83del
NM_000465.3:c.247_249del	NP_000456.2:p.Cys83del
NM_001282543.1:c.190_192del	NP_001269472.1:p.Cys64del
NM_001282543.2:c.190_192del	NP_001269472.1:p.Cys64del
NM_001282545.1:c.215+4647_215+4649del	NP_001269474.1:n.215+4647_215+4649del
NM_001282545.2:c.215+4647_215+4649del	NP_001269474.1:n.215+4647_215+4649del
NM_001282548.1:c.158+16998_158+17000del	NP_001269477.1:n.158+16998_158+17000del
NM_001282548.2:c.158+16998_158+17000del	NP_001269477.1:n.158+16998_158+17000del
NM_001282549.1:c.247_249del	NP_001269478.1:p.Cys83del
NM_001282549.2:c.247_249del	NP_001269478.1:p.Cys83del
NR_104212.1:n.357+4647_357+4649del
NR_104212.2:n.329+4647_329+4649del
NR_104215.1:n.301-10905_301-10903del
NR_104215.2:n.273-10905_273-10903del
NR_104216.1:n.389_391del
NR_104216.2:n.361_363del
ENST00000260947.8:c.247_249del	ENSP00000260947.4:p.Cys83del
ENST00000421162.1:c.215+4647_215+4649del	ENSP00000392245.1:n.215+4647_215+4649del
ENST00000421162.2:c.215+4647_215+4649del	ENSP00000392245.2:n.215+4647_215+4649del
ENST00000455743.5:c.215+4647_215+4649del	ENSP00000412186.1:n.215+4647_215+4649del
ENST00000471787.1:n.260-10905_260-10903del
ENST00000613192.1:c.73+16998_73+17000del	ENSP00000483275.1:n.73+16998_73+17000del
ENST00000613192.2:c.158+16998_158+17000del	ENSP00000483275.2:n.158+16998_158+17000del
ENST00000613374.4:c.158+16998_158+17000del	ENSP00000484464.1:n.158+16998_158+17000del
ENST00000613374.5:c.158+16998_158+17000del	ENSP00000484464.1:n.158+16998_158+17000del
ENST00000613706.4:c.215+4647_215+4649del	ENSP00000484976.1:n.215+4647_215+4649del
ENST00000613706.5:c.247_249del	ENSP00000484976.2:p.Cys83del
ENST00000617164.4:c.190_192del	ENSP00000480470.1:p.Cys64del
ENST00000617164.5:c.190_192del	ENSP00000480470.1:p.Cys64del
ENST00000619009.4:c.247_249del	ENSP00000482293.1:p.Cys83del
ENST00000619009.5:c.247_249del	ENSP00000482293.1:p.Cys83del
ENST00000620057.4:c.247_249del	ENSP00000481988.1:p.Cys83del
ENST00000650978.1:c.89_91del
XM_011511567.1:c.193_195del	XP_011509869.1:p.Cys65del
XM_011511568.1:c.247_249del	XP_011509870.1:p.Cys83del
XM_017004613.1:c.346_348del	XP_016860102.1:p.Cys116del
XM_017004614.1:c.346_348del	XP_016860103.1:p.Cys116del
XR_002959322.1:n.437_439del