Canonical Allele Identifier: CA170035

Gene: BARD1

Linked Data

• ClinVar Variation Id: 143017
• ClinVar RCV Id: RCV000132536 ; RCV000414583 ; RCV000635815
• dbSNP Id: rs587782897
• gnomAD v3: 2-214745151-CAT-C
• gnomAD v4: 2-214745151-CAT-C
• MyVariant Identifiers: chr2:g.215609876_215609877del (hg19) ; chr2:g.214745152_214745153del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745152_214745153del , CM000664.2:g.214745152_214745153del	GRCh38
NC_000002.11:g.215609876_215609877del , CM000664.1:g.215609876_215609877del	GRCh37
NC_000002.10:g.215318121_215318122del	NCBI36
NG_012047.2:g.69552_69553del
NG_012047.3:g.69559_69560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1817_1818del MANE Select	ENSP00000260947.4:p.His606ArgfsTer6
ENST00000421162.2:c.464_465del	ENSP00000392245.2:p.His155ArgfsTer6
ENST00000613192.2:c.159-14645_159-14644del	ENSP00000483275.2:n.159-14645_159-14644del
ENST00000613374.5:c.407_408del	ENSP00000484464.1:p.His136ArgfsTer6
ENST00000613706.5:c.1409_1410del	ENSP00000484976.2:p.His470ArgfsTer6
ENST00000617164.5:c.1760_1761del	ENSP00000480470.1:p.His587ArgfsTer6
ENST00000619009.5:c.365-14645_365-14644del	ENSP00000482293.1:n.365-14645_365-14644del
ENST00000650978.1:c.3192_3193del
ENST00000260947.8:c.1817_1818del	ENSP00000260947.4:p.His606ArgfsTer6
ENST00000421162.1:c.464_465del	ENSP00000392245.1:p.His155ArgfsTer6
ENST00000455743.5:c.*1437_*1438del	ENSP00000412186.1:n.*1437_*1438del
ENST00000613192.1:c.74-14645_74-14644del	ENSP00000483275.1:n.74-14645_74-14644del
ENST00000613374.4:c.407_408del	ENSP00000484464.1:p.His136ArgfsTer6
ENST00000613706.4:c.464_465del	ENSP00000484976.1:p.His155ArgfsTer6
ENST00000617164.4:c.1760_1761del	ENSP00000480470.1:p.His587ArgfsTer6
ENST00000619009.4:c.365-14645_365-14644del	ENSP00000482293.1:n.365-14645_365-14644del
ENST00000620057.4:c.*483_*484del	ENSP00000481988.1:n.*483_*484del
NM_000465.3:c.1817_1818del	NP_000456.2:p.His606ArgfsTer6
NM_001282543.1:c.1760_1761del	NP_001269472.1:p.His587ArgfsTer6
NM_001282545.1:c.464_465del	NP_001269474.1:p.His155ArgfsTer6
NM_001282548.1:c.407_408del	NP_001269477.1:p.His136ArgfsTer6
NM_001282549.1:c.365-14645_365-14644del	NP_001269478.1:n.365-14645_365-14644del
NR_104212.1:n.1810_1811del
NR_104215.1:n.1753_1754del
NR_104216.1:n.1009_1010del
XM_011511567.1:c.1763_1764del	XP_011509869.1:p.His588ArgfsTer6
XM_011511568.1:c.1817_1818del	XP_011509870.1:p.His606ArgfsTer6
XM_017004613.1:c.1916_1917del	XP_016860102.1:p.His639ArgfsTer6
XM_017004614.1:c.1916_1917del	XP_016860103.1:p.His639ArgfsTer6
XR_002959322.1:n.2007_2008del
NM_000465.4:c.1817_1818del MANE Select	NP_000456.2:p.His606ArgfsTer6
NM_001282543.2:c.1760_1761del	NP_001269472.1:p.His587ArgfsTer6
NM_001282545.2:c.464_465del	NP_001269474.1:p.His155ArgfsTer6
NM_001282548.2:c.407_408del	NP_001269477.1:p.His136ArgfsTer6
NM_001282549.2:c.365-14645_365-14644del	NP_001269478.1:n.365-14645_365-14644del
NR_104212.2:n.1782_1783del
NR_104215.2:n.1725_1726del
NR_104216.2:n.981_982del