Canonical Allele Identifier: CA1327071200

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1025009
• ClinVar RCV Id: RCV001325265
• dbSNP Id: rs1694983540

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214780984_214780986del , CM000664.2:g.214780984_214780986del	GRCh38
NC_000002.11:g.215645708_215645710del , CM000664.1:g.215645708_215645710del	GRCh37
NC_000002.10:g.215353953_215353955del	NCBI36
NG_012047.2:g.33722_33724del
NG_012047.3:g.33729_33731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.891_893del MANE Select	ENSP00000260947.4:p.Val298del
ENST00000421162.2:c.215+16078_215+16080del	ENSP00000392245.2:n.215+16078_215+16080del
ENST00000613192.2:c.158+28429_158+28431del	ENSP00000483275.2:n.158+28429_158+28431del
ENST00000613374.5:c.159-28428_159-28426del	ENSP00000484464.1:n.159-28428_159-28426del
ENST00000613706.5:c.891_893del	ENSP00000484976.2:p.Val298del
ENST00000617164.5:c.834_836del	ENSP00000480470.1:p.Val279del
ENST00000619009.5:c.364+11314_364+11316del	ENSP00000482293.1:n.364+11314_364+11316del
ENST00000650978.1:c.733_735del
ENST00000260947.8:c.891_893del	ENSP00000260947.4:p.Val298del
ENST00000421162.1:c.215+16078_215+16080del	ENSP00000392245.1:n.215+16078_215+16080del
ENST00000455743.5:c.*511_*513del	ENSP00000412186.1:n.*511_*513del
ENST00000471787.1:n.786_788del
ENST00000613192.1:c.73+28429_73+28431del	ENSP00000483275.1:n.73+28429_73+28431del
ENST00000613374.4:c.159-28428_159-28426del	ENSP00000484464.1:n.159-28428_159-28426del
ENST00000613706.4:c.215+16078_215+16080del	ENSP00000484976.1:n.215+16078_215+16080del
ENST00000617164.4:c.834_836del	ENSP00000480470.1:p.Val279del
ENST00000619009.4:c.364+11314_364+11316del	ENSP00000482293.1:n.364+11314_364+11316del
ENST00000620057.4:c.364+11314_364+11316del	ENSP00000481988.1:n.364+11314_364+11316del
NM_000465.3:c.891_893del	NP_000456.2:p.Val298del
NM_001282543.1:c.834_836del	NP_001269472.1:p.Val279del
NM_001282545.1:c.215+16078_215+16080del	NP_001269474.1:n.215+16078_215+16080del
NM_001282548.1:c.159-28428_159-28426del	NP_001269477.1:n.159-28428_159-28426del
NM_001282549.1:c.364+11314_364+11316del	NP_001269478.1:n.364+11314_364+11316del
NR_104212.1:n.884_886del
NR_104215.1:n.827_829del
NR_104216.1:n.506+11314_506+11316del
XM_011511567.1:c.837_839del	XP_011509869.1:p.Val280del
XM_011511568.1:c.891_893del	XP_011509870.1:p.Val298del
XM_017004613.1:c.990_992del	XP_016860102.1:p.Val331del
XM_017004614.1:c.990_992del	XP_016860103.1:p.Val331del
XR_002959322.1:n.1081_1083del
NM_000465.4:c.891_893del MANE Select	NP_000456.2:p.Val298del
NM_001282543.2:c.834_836del	NP_001269472.1:p.Val279del
NM_001282545.2:c.215+16078_215+16080del	NP_001269474.1:n.215+16078_215+16080del
NM_001282548.2:c.159-28428_159-28426del	NP_001269477.1:n.159-28428_159-28426del
NM_001282549.2:c.364+11314_364+11316del	NP_001269478.1:n.364+11314_364+11316del
NR_104212.2:n.856_858del
NR_104215.2:n.799_801del
NR_104216.2:n.478+11314_478+11316del