Canonical Allele Identifier: CA16610663

Gene: BARD1

Linked Data

• ClinVar Variation Id: 406717
• ClinVar RCV Id: RCV003168770
• dbSNP Id: rs1060501268
• MyVariant Identifiers: chr2:g.215661789_215661791del (hg19) ; chr2:g.214797065_214797067del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214797068_214797070del , CM000664.2:g.214797068_214797070del	GRCh38
NC_000002.11:g.215661792_215661794del , CM000664.1:g.215661792_215661794del	GRCh37
NC_000002.10:g.215370037_215370039del	NCBI36
NG_012047.2:g.17638_17640del
NG_012047.3:g.17645_17647del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.209_211del MANE Select	ENSP00000260947.4:p.Phe70del
ENST00000421162.2:c.209_211del	ENSP00000392245.2:p.Phe70del
ENST00000613192.2:c.158+12345_158+12347del	ENSP00000483275.2:n.158+12345_158+12347de...
ENST00000613374.5:c.158+12345_158+12347del	ENSP00000484464.1:n.158+12345_158+12347de...
ENST00000613706.5:c.209_211del	ENSP00000484976.2:p.Phe70del
ENST00000617164.5:c.159-4622_159-4620del	ENSP00000480470.1:n.159-4622_159-4620del
ENST00000619009.5:c.209_211del	ENSP00000482293.1:p.Phe70del
ENST00000650978.1:c.51_53del
ENST00000260947.8:c.209_211del	ENSP00000260947.4:p.Phe70del
ENST00000421162.1:c.209_211del	ENSP00000392245.1:p.Phe70del
ENST00000455743.5:c.209_211del	ENSP00000412186.1:p.Phe70del
ENST00000471787.1:n.259+12345_259+12347del
ENST00000479904.1:n.300_302del
ENST00000613192.1:c.73+12345_73+12347del	ENSP00000483275.1:n.73+12345_73+12347del
ENST00000613374.4:c.158+12345_158+12347del	ENSP00000484464.1:n.158+12345_158+12347de...
ENST00000613706.4:c.209_211del	ENSP00000484976.1:p.Phe70del
ENST00000617164.4:c.159-4622_159-4620del	ENSP00000480470.1:n.159-4622_159-4620del
ENST00000619009.4:c.209_211del	ENSP00000482293.1:p.Phe70del
ENST00000620057.4:c.209_211del	ENSP00000481988.1:p.Phe70del
NM_000465.3:c.209_211del	NP_000456.2:p.Phe70del
NM_001282543.1:c.159-4622_159-4620del	NP_001269472.1:n.159-4622_159-4620del
NM_001282545.1:c.209_211del	NP_001269474.1:p.Phe70del
NM_001282548.1:c.158+12345_158+12347del	NP_001269477.1:n.158+12345_158+12347del
NM_001282549.1:c.209_211del	NP_001269478.1:p.Phe70del
NR_104212.1:n.351_353del
NR_104215.1:n.300+12345_300+12347del
NR_104216.1:n.351_353del
XM_011511567.1:c.155_157del	XP_011509869.1:p.Phe52del
XM_011511568.1:c.209_211del	XP_011509870.1:p.Phe70del
XM_017004613.1:c.209_211del	XP_016860102.1:p.Phe70del
XM_017004614.1:c.209_211del	XP_016860103.1:p.Phe70del
XR_002959322.1:n.300_302del
NM_000465.4:c.209_211del MANE Select	NP_000456.2:p.Phe70del
NM_001282543.2:c.159-4622_159-4620del	NP_001269472.1:n.159-4622_159-4620del
NM_001282545.2:c.209_211del	NP_001269474.1:p.Phe70del
NM_001282548.2:c.158+12345_158+12347del	NP_001269477.1:n.158+12345_158+12347del
NM_001282549.2:c.209_211del	NP_001269478.1:p.Phe70del
NR_104212.2:n.323_325del
NR_104215.2:n.272+12345_272+12347del
NR_104216.2:n.323_325del