Canonical Allele Identifier: CA2090117

Gene: BARD1

Linked Data

• ClinVar Variation Id: 1782354
• ClinVar RCV Id: RCV002408309 ; RCV003164546
• dbSNP Id: rs771472958
• ExAC: 2:215595232 CCT / C
• gnomAD v2: 2-215595232-CCT-C
• gnomAD v4: 2-214730508-CCT-C
• MyVariant Identifiers: chr2:g.215595233_215595234del (hg19) ; chr2:g.214730509_214730510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730509_214730510del , CM000664.2:g.214730509_214730510del	GRCh38
NC_000002.11:g.215595233_215595234del , CM000664.1:g.215595233_215595234del	GRCh37
NC_000002.10:g.215303478_215303479del	NCBI36
NG_012047.2:g.84195_84196del
NG_012047.3:g.84202_84203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-2_1904-1del MANE Select	ENSP00000260947.4:n.1904-2_1904-1del
ENST00000421162.2:c.551-2_551-1del	ENSP00000392245.2:n.551-2_551-1del
ENST00000613192.2:c.159-2_159-1del	ENSP00000483275.2:n.159-2_159-1del
ENST00000613374.5:c.494-2_494-1del	ENSP00000484464.1:n.494-2_494-1del
ENST00000613706.5:c.1496-2_1496-1del	ENSP00000484976.2:n.1496-2_1496-1del
ENST00000617164.5:c.1847-2_1847-1del	ENSP00000480470.1:n.1847-2_1847-1del
ENST00000619009.5:c.365-2_365-1del	ENSP00000482293.1:n.365-2_365-1del
ENST00000650978.1:c.3279-2_3279-1del
ENST00000260947.8:c.1904-2_1904-1del	ENSP00000260947.4:n.1904-2_1904-1del
ENST00000421162.1:c.551-2_551-1del	ENSP00000392245.1:n.551-2_551-1del
ENST00000455743.5:c.*1524-2_*1524-1del	ENSP00000412186.1:n.*1524-2_*1524-1del
ENST00000471590.5:n.239-2_239-1del
ENST00000613192.1:c.74-2_74-1del	ENSP00000483275.1:n.74-2_74-1del
ENST00000613374.4:c.494-2_494-1del	ENSP00000484464.1:n.494-2_494-1del
ENST00000613706.4:c.551-2_551-1del	ENSP00000484976.1:n.551-2_551-1del
ENST00000617164.4:c.1847-2_1847-1del	ENSP00000480470.1:n.1847-2_1847-1del
ENST00000619009.4:c.365-2_365-1del	ENSP00000482293.1:n.365-2_365-1del
ENST00000620057.4:c.*570-2_*570-1del	ENSP00000481988.1:n.*570-2_*570-1del
NM_000465.3:c.1904-2_1904-1del	NP_000456.2:n.1904-2_1904-1del
NM_001282543.1:c.1847-2_1847-1del	NP_001269472.1:n.1847-2_1847-1del
NM_001282545.1:c.551-2_551-1del	NP_001269474.1:n.551-2_551-1del
NM_001282548.1:c.494-2_494-1del	NP_001269477.1:n.494-2_494-1del
NM_001282549.1:c.365-2_365-1del	NP_001269478.1:n.365-2_365-1del
NR_104212.1:n.1897-2_1897-1del
NR_104215.1:n.1840-2_1840-1del
NR_104216.1:n.1096-2_1096-1del
XM_011511567.1:c.1850-2_1850-1del	XP_011509869.1:n.1850-2_1850-1del
XM_017004613.1:c.2003-2_2003-1del	XP_016860102.1:n.2003-2_2003-1del
XR_002959322.1:n.2094-2_2094-1del
NM_000465.4:c.1904-2_1904-1del MANE Select	NP_000456.2:n.1904-2_1904-1del
NM_001282543.2:c.1847-2_1847-1del	NP_001269472.1:n.1847-2_1847-1del
NM_001282545.2:c.551-2_551-1del	NP_001269474.1:n.551-2_551-1del
NM_001282548.2:c.494-2_494-1del	NP_001269477.1:n.494-2_494-1del
NM_001282549.2:c.365-2_365-1del	NP_001269478.1:n.365-2_365-1del
NR_104212.2:n.1869-2_1869-1del
NR_104215.2:n.1812-2_1812-1del
NR_104216.2:n.1068-2_1068-1del