Canonical Allele Identifier: CA658657217

Gene: BARD1

Linked Data

• ClinVar Variation Id: 481385
• ClinVar RCV Id: RCV000575133 ; RCV000697522
• dbSNP Id: rs1553628381
• gnomAD v4: 2-214809454-GCGCGACTGTGGGCCCAGGCAC-G
• MyVariant Identifiers: chr2:g.215674179_215674199del (hg19) ; chr2:g.214809455_214809475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809461_214809481del , CM000664.2:g.214809461_214809481del	GRCh38
NC_000002.11:g.215674185_215674205del , CM000664.1:g.215674185_215674205del	GRCh37
NC_000002.10:g.215382430_215382450del	NCBI36
NG_012047.2:g.5230_5250del
NG_012047.3:g.5237_5257del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.95_115del MANE Select	ENSP00000260947.4:p.Gly32_Arg38del
ENST00000421162.2:c.95_115del	ENSP00000392245.2:p.Gly32_Arg38del
ENST00000613192.2:c.95_115del	ENSP00000483275.2:p.Gly32_Arg38del
ENST00000613374.5:c.95_115del	ENSP00000484464.1:p.Gly32_Arg38del
ENST00000613706.5:c.95_115del	ENSP00000484976.2:p.Gly32_Arg38del
ENST00000617164.5:c.95_115del	ENSP00000480470.1:p.Gly32_Arg38del
ENST00000619009.5:c.95_115del	ENSP00000482293.1:p.Gly32_Arg38del
ENST00000260947.8:c.95_115del	ENSP00000260947.4:p.Gly32_Arg38del
ENST00000421162.1:c.95_115del	ENSP00000392245.1:p.Gly32_Arg38del
ENST00000455743.5:c.95_115del	ENSP00000412186.1:p.Gly32_Arg38del
ENST00000471787.1:n.196_216del
ENST00000479904.1:n.186_206del
ENST00000613192.1:c.10_30del	ENSP00000483275.1:p.Val4_Ala10del
ENST00000613374.4:c.95_115del	ENSP00000484464.1:p.Gly32_Arg38del
ENST00000613706.4:c.95_115del	ENSP00000484976.1:p.Gly32_Arg38del
ENST00000617164.4:c.95_115del	ENSP00000480470.1:p.Gly32_Arg38del
ENST00000619009.4:c.95_115del	ENSP00000482293.1:p.Gly32_Arg38del
ENST00000620057.4:c.95_115del	ENSP00000481988.1:p.Gly32_Arg38del
NM_000465.3:c.95_115del	NP_000456.2:p.Gly32_Arg38del
NM_001282543.1:c.95_115del	NP_001269472.1:p.Gly32_Arg38del
NM_001282545.1:c.95_115del	NP_001269474.1:p.Gly32_Arg38del
NM_001282548.1:c.95_115del	NP_001269477.1:p.Gly32_Arg38del
NM_001282549.1:c.95_115del	NP_001269478.1:p.Gly32_Arg38del
NR_104212.1:n.237_257del
NR_104215.1:n.237_257del
NR_104216.1:n.237_257del
XM_011511568.1:c.95_115del	XP_011509870.1:p.Gly32_Arg38del
XM_017004613.1:c.95_115del	XP_016860102.1:p.Gly32_Arg38del
XM_017004614.1:c.95_115del	XP_016860103.1:p.Gly32_Arg38del
XR_002959322.1:n.186_206del
NM_000465.4:c.95_115del MANE Select	NP_000456.2:p.Gly32_Arg38del
NM_001282543.2:c.95_115del	NP_001269472.1:p.Gly32_Arg38del
NM_001282545.2:c.95_115del	NP_001269474.1:p.Gly32_Arg38del
NM_001282548.2:c.95_115del	NP_001269477.1:p.Gly32_Arg38del
NM_001282549.2:c.95_115del	NP_001269478.1:p.Gly32_Arg38del
NR_104212.2:n.209_229del
NR_104215.2:n.209_229del
NR_104216.2:n.209_229del