Canonical Allele Identifier: CA539520776

Gene: BARD1

Linked Data

• dbSNP Id: rs1329931599
• gnomAD v2: 2-215635834-CATT-C
• gnomAD v3: 2-214771110-CATT-C
• gnomAD v4: 2-214771110-CATT-C
• MyVariant Identifiers: chr2:g.215635835_215635837del (hg19) ; chr2:g.214771111_214771113del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214771116_214771118del , CM000664.2:g.214771116_214771118del	GRCh38
NC_000002.11:g.215635840_215635842del , CM000664.1:g.215635840_215635842del	GRCh37
NC_000002.10:g.215344085_215344087del	NCBI36
NG_012047.2:g.43592_43594del
NG_012047.3:g.43599_43601del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1315-1801_1315-1799del MANE Select	ENSP00000260947.4:n.1315-1801_1315-1799de...
ENST00000421162.2:c.216-18558_216-18556del	ENSP00000392245.2:n.216-18558_216-18556de...
ENST00000613192.2:c.158+38299_158+38301del	ENSP00000483275.2:n.158+38299_158+38301de...
ENST00000613374.5:c.159-18558_159-18556del	ENSP00000484464.1:n.159-18558_159-18556de...
ENST00000613706.5:c.907-1801_907-1799del	ENSP00000484976.2:n.907-1801_907-1799del
ENST00000617164.5:c.1258-1801_1258-1799del	ENSP00000480470.1:n.1258-1801_1258-1799de...
ENST00000619009.5:c.364+21184_364+21186del	ENSP00000482293.1:n.364+21184_364+21186de...
ENST00000650978.1:c.1157-268_1157-266del
ENST00000260947.8:c.1315-1801_1315-1799del	ENSP00000260947.4:n.1315-1801_1315-1799de...
ENST00000421162.1:c.216-18558_216-18556del	ENSP00000392245.1:n.216-18558_216-18556de...
ENST00000455743.5:c.*935-1801_*935-1799del	ENSP00000412186.1:n.*935-1801_*935-1799de...
ENST00000613192.1:c.73+38299_73+38301del	ENSP00000483275.1:n.73+38299_73+38301del
ENST00000613374.4:c.159-18558_159-18556del	ENSP00000484464.1:n.159-18558_159-18556de...
ENST00000613706.4:c.216-18558_216-18556del	ENSP00000484976.1:n.216-18558_216-18556de...
ENST00000617164.4:c.1258-1801_1258-1799del	ENSP00000480470.1:n.1258-1801_1258-1799de...
ENST00000619009.4:c.364+21184_364+21186del	ENSP00000482293.1:n.364+21184_364+21186de...
ENST00000620057.4:c.365-1801_365-1799del	ENSP00000481988.1:n.365-1801_365-1799del
NM_000465.3:c.1315-1801_1315-1799del	NP_000456.2:n.1315-1801_1315-1799del
NM_001282543.1:c.1258-1801_1258-1799del	NP_001269472.1:n.1258-1801_1258-1799del
NM_001282545.1:c.216-18558_216-18556del	NP_001269474.1:n.216-18558_216-18556del
NM_001282548.1:c.159-18558_159-18556del	NP_001269477.1:n.159-18558_159-18556del
NM_001282549.1:c.364+21184_364+21186del	NP_001269478.1:n.364+21184_364+21186del
NR_104212.1:n.1308-1801_1308-1799del
NR_104215.1:n.1251-1801_1251-1799del
NR_104216.1:n.507-1801_507-1799del
XM_011511567.1:c.1261-1801_1261-1799del	XP_011509869.1:n.1261-1801_1261-1799del
XM_011511568.1:c.1315-1801_1315-1799del	XP_011509870.1:n.1315-1801_1315-1799del
XM_017004613.1:c.1414-1801_1414-1799del	XP_016860102.1:n.1414-1801_1414-1799del
XM_017004614.1:c.1414-1801_1414-1799del	XP_016860103.1:n.1414-1801_1414-1799del
XR_002959322.1:n.1505-1801_1505-1799del
NM_000465.4:c.1315-1801_1315-1799del MANE Select	NP_000456.2:n.1315-1801_1315-1799del
NM_001282543.2:c.1258-1801_1258-1799del	NP_001269472.1:n.1258-1801_1258-1799del
NM_001282545.2:c.216-18558_216-18556del	NP_001269474.1:n.216-18558_216-18556del
NM_001282548.2:c.159-18558_159-18556del	NP_001269477.1:n.159-18558_159-18556del
NM_001282549.2:c.364+21184_364+21186del	NP_001269478.1:n.364+21184_364+21186del
NR_104212.2:n.1280-1801_1280-1799del
NR_104215.2:n.1223-1801_1223-1799del
NR_104216.2:n.479-1801_479-1799del