Canonical Allele Identifier: CA764585252

Gene: BARD1

Linked Data

• dbSNP Id: rs1289391221
• MyVariant Identifiers: chr2:g.215635815_215635817del (hg19) ; chr2:g.214771091_214771093del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214771093_214771095del , CM000664.2:g.214771093_214771095del	GRCh38
NC_000002.11:g.215635817_215635819del , CM000664.1:g.215635817_215635819del	GRCh37
NC_000002.10:g.215344062_215344064del	NCBI36
NG_012047.2:g.43612_43614del
NG_012047.3:g.43619_43621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.1315-1781_1315-1779del MANE Select	ENSP00000260947.4:n.1315-1781_1315-1779de...
ENST00000421162.2:c.216-18538_216-18536del	ENSP00000392245.2:n.216-18538_216-18536de...
ENST00000613192.2:c.158+38319_158+38321del	ENSP00000483275.2:n.158+38319_158+38321de...
ENST00000613374.5:c.159-18538_159-18536del	ENSP00000484464.1:n.159-18538_159-18536de...
ENST00000613706.5:c.907-1781_907-1779del	ENSP00000484976.2:n.907-1781_907-1779del
ENST00000617164.5:c.1258-1781_1258-1779del	ENSP00000480470.1:n.1258-1781_1258-1779de...
ENST00000619009.5:c.364+21204_364+21206del	ENSP00000482293.1:n.364+21204_364+21206de...
ENST00000650978.1:c.1157-248_1157-246del
ENST00000260947.8:c.1315-1781_1315-1779del	ENSP00000260947.4:n.1315-1781_1315-1779de...
ENST00000421162.1:c.216-18538_216-18536del	ENSP00000392245.1:n.216-18538_216-18536de...
ENST00000455743.5:c.*935-1781_*935-1779del	ENSP00000412186.1:n.*935-1781_*935-1779de...
ENST00000613192.1:c.73+38319_73+38321del	ENSP00000483275.1:n.73+38319_73+38321del
ENST00000613374.4:c.159-18538_159-18536del	ENSP00000484464.1:n.159-18538_159-18536de...
ENST00000613706.4:c.216-18538_216-18536del	ENSP00000484976.1:n.216-18538_216-18536de...
ENST00000617164.4:c.1258-1781_1258-1779del	ENSP00000480470.1:n.1258-1781_1258-1779de...
ENST00000619009.4:c.364+21204_364+21206del	ENSP00000482293.1:n.364+21204_364+21206de...
ENST00000620057.4:c.365-1781_365-1779del	ENSP00000481988.1:n.365-1781_365-1779del
NM_000465.3:c.1315-1781_1315-1779del	NP_000456.2:n.1315-1781_1315-1779del
NM_001282543.1:c.1258-1781_1258-1779del	NP_001269472.1:n.1258-1781_1258-1779del
NM_001282545.1:c.216-18538_216-18536del	NP_001269474.1:n.216-18538_216-18536del
NM_001282548.1:c.159-18538_159-18536del	NP_001269477.1:n.159-18538_159-18536del
NM_001282549.1:c.364+21204_364+21206del	NP_001269478.1:n.364+21204_364+21206del
NR_104212.1:n.1308-1781_1308-1779del
NR_104215.1:n.1251-1781_1251-1779del
NR_104216.1:n.507-1781_507-1779del
XM_011511567.1:c.1261-1781_1261-1779del	XP_011509869.1:n.1261-1781_1261-1779del
XM_011511568.1:c.1315-1781_1315-1779del	XP_011509870.1:n.1315-1781_1315-1779del
XM_017004613.1:c.1414-1781_1414-1779del	XP_016860102.1:n.1414-1781_1414-1779del
XM_017004614.1:c.1414-1781_1414-1779del	XP_016860103.1:n.1414-1781_1414-1779del
XR_002959322.1:n.1505-1781_1505-1779del
NM_000465.4:c.1315-1781_1315-1779del MANE Select	NP_000456.2:n.1315-1781_1315-1779del
NM_001282543.2:c.1258-1781_1258-1779del	NP_001269472.1:n.1258-1781_1258-1779del
NM_001282545.2:c.216-18538_216-18536del	NP_001269474.1:n.216-18538_216-18536del
NM_001282548.2:c.159-18538_159-18536del	NP_001269477.1:n.159-18538_159-18536del
NM_001282549.2:c.364+21204_364+21206del	NP_001269478.1:n.364+21204_364+21206del
NR_104212.2:n.1280-1781_1280-1779del
NR_104215.2:n.1223-1781_1223-1779del
NR_104216.2:n.479-1781_479-1779del