Canonical Allele Identifier: CA3249308785

Gene: BARD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214792314_214792316del , CM000664.2:g.214792314_214792316del	GRCh38
NC_000002.11:g.215657038_215657040del , CM000664.1:g.215657038_215657040del	GRCh37
NC_000002.10:g.215365283_215365285del	NCBI36
NG_012047.2:g.22389_22391del
NG_012047.3:g.22396_22398del

Transcript Alleles

HGVS	Amino-acid Change
NM_000465.4:c.345_347del MANE Select	NP_000456.2:p.His116del
ENST00000260947.9:c.345_347del MANE Select	ENSP00000260947.4:p.His116del
NM_000465.3:c.345_347del	NP_000456.2:p.His116del
NM_001282543.1:c.288_290del	NP_001269472.1:p.His97del
NM_001282543.2:c.288_290del	NP_001269472.1:p.His97del
NM_001282545.1:c.215+4745_215+4747del	NP_001269474.1:n.215+4745_215+4747del
NM_001282545.2:c.215+4745_215+4747del	NP_001269474.1:n.215+4745_215+4747del
NM_001282548.1:c.158+17096_158+17098del	NP_001269477.1:n.158+17096_158+17098del
NM_001282548.2:c.158+17096_158+17098del	NP_001269477.1:n.158+17096_158+17098del
NM_001282549.1:c.345_347del	NP_001269478.1:p.His116del
NM_001282549.2:c.345_347del	NP_001269478.1:p.His116del
NR_104212.1:n.357+4745_357+4747del
NR_104212.2:n.329+4745_329+4747del
NR_104215.1:n.301-10807_301-10805del
NR_104215.2:n.273-10807_273-10805del
NR_104216.1:n.487_489del
NR_104216.2:n.459_461del
ENST00000260947.8:c.345_347del	ENSP00000260947.4:p.His116del
ENST00000421162.1:c.215+4745_215+4747del	ENSP00000392245.1:n.215+4745_215+4747del
ENST00000421162.2:c.215+4745_215+4747del	ENSP00000392245.2:n.215+4745_215+4747del
ENST00000455743.5:c.215+4745_215+4747del	ENSP00000412186.1:n.215+4745_215+4747del
ENST00000471787.1:n.260-10807_260-10805del
ENST00000613192.1:c.73+17096_73+17098del	ENSP00000483275.1:n.73+17096_73+17098del
ENST00000613192.2:c.158+17096_158+17098del	ENSP00000483275.2:n.158+17096_158+17098del
ENST00000613374.4:c.158+17096_158+17098del	ENSP00000484464.1:n.158+17096_158+17098del
ENST00000613374.5:c.158+17096_158+17098del	ENSP00000484464.1:n.158+17096_158+17098del
ENST00000613706.4:c.215+4745_215+4747del	ENSP00000484976.1:n.215+4745_215+4747del
ENST00000613706.5:c.345_347del	ENSP00000484976.2:p.His116del
ENST00000617164.4:c.288_290del	ENSP00000480470.1:p.His97del
ENST00000617164.5:c.288_290del	ENSP00000480470.1:p.His97del
ENST00000619009.4:c.345_347del	ENSP00000482293.1:p.His116del
ENST00000619009.5:c.345_347del	ENSP00000482293.1:p.His116del
ENST00000620057.4:c.345_347del	ENSP00000481988.1:p.His116del
ENST00000650978.1:c.187_189del
XM_011511567.1:c.291_293del	XP_011509869.1:p.His98del
XM_011511568.1:c.345_347del	XP_011509870.1:p.His116del
XM_017004613.1:c.444_446del	XP_016860102.1:p.His149del
XM_017004614.1:c.444_446del	XP_016860103.1:p.His149del
XR_002959322.1:n.535_537del