Canonical Allele Identifier: CA2573135154

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1375539
• ClinVar RCV Id: RCV001879717
• dbSNP Id: rs2106108885

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780804_214780807del , CM000664.2:g.214780804_214780807del	GRCh38
NC_000002.11:g.215645528_215645531del , CM000664.1:g.215645528_215645531del	GRCh37
NC_000002.10:g.215353773_215353776del	NCBI36
NG_012047.2:g.33899_33902del
NG_012047.3:g.33906_33909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1068_1071del MANE Select	ENSP00000260947.4:p.Ile357HisfsTer?
ENST00000421162.2:c.215+16255_215+16258del	ENSP00000392245.2:n.215+16255_215+16258del
ENST00000613192.2:c.158+28606_158+28609del	ENSP00000483275.2:n.158+28606_158+28609del
ENST00000613374.5:c.159-28251_159-28248del	ENSP00000484464.1:n.159-28251_159-28248del
ENST00000613706.5:c.906+162_906+165del	ENSP00000484976.2:n.906+162_906+165del
ENST00000617164.5:c.1011_1014del	ENSP00000480470.1:p.Ile338HisfsTer?
ENST00000619009.5:c.364+11491_364+11494del	ENSP00000482293.1:n.364+11491_364+11494del
ENST00000650978.1:c.910_913del
ENST00000260947.8:c.1068_1071del	ENSP00000260947.4:p.Ile357HisfsTer?
ENST00000421162.1:c.215+16255_215+16258del	ENSP00000392245.1:n.215+16255_215+16258del
ENST00000455743.5:c.*688_*691del	ENSP00000412186.1:n.*688_*691del
ENST00000613192.1:c.73+28606_73+28609del	ENSP00000483275.1:n.73+28606_73+28609del
ENST00000613374.4:c.159-28251_159-28248del	ENSP00000484464.1:n.159-28251_159-28248del
ENST00000613706.4:c.215+16255_215+16258del	ENSP00000484976.1:n.215+16255_215+16258del
ENST00000617164.4:c.1011_1014del	ENSP00000480470.1:p.Ile338HisfsTer?
ENST00000619009.4:c.364+11491_364+11494del	ENSP00000482293.1:n.364+11491_364+11494del
ENST00000620057.4:c.364+11491_365-11491del	ENSP00000481988.1:n.364+11491_365-11491del
NM_000465.3:c.1068_1071del	NP_000456.2:p.Ile357HisfsTer?
NM_001282543.1:c.1011_1014del	NP_001269472.1:p.Ile338HisfsTer?
NM_001282545.1:c.215+16255_215+16258del	NP_001269474.1:n.215+16255_215+16258del
NM_001282548.1:c.159-28251_159-28248del	NP_001269477.1:n.159-28251_159-28248del
NM_001282549.1:c.364+11491_364+11494del	NP_001269478.1:n.364+11491_364+11494del
NR_104212.1:n.1061_1064del
NR_104215.1:n.1004_1007del
NR_104216.1:n.506+11491_507-11491del
XM_011511567.1:c.1014_1017del	XP_011509869.1:p.Ile339HisfsTer?
XM_011511568.1:c.1068_1071del	XP_011509870.1:p.Ile357HisfsTer?
XM_017004613.1:c.1167_1170del	XP_016860102.1:p.Ile390HisfsTer?
XM_017004614.1:c.1167_1170del	XP_016860103.1:p.Ile390HisfsTer?
XR_002959322.1:n.1258_1261del
NM_000465.4:c.1068_1071del MANE Select	NP_000456.2:p.Ile357HisfsTer?
NM_001282543.2:c.1011_1014del	NP_001269472.1:p.Ile338HisfsTer?
NM_001282545.2:c.215+16255_215+16258del	NP_001269474.1:n.215+16255_215+16258del
NM_001282548.2:c.159-28251_159-28248del	NP_001269477.1:n.159-28251_159-28248del
NM_001282549.2:c.364+11491_364+11494del	NP_001269478.1:n.364+11491_364+11494del
NR_104212.2:n.1033_1036del
NR_104215.2:n.976_979del
NR_104216.2:n.478+11491_479-11491del