Canonical Allele Identifier: CA1327045456

Gene: BARD1

Linked Data

• dbSNP Id: rs1692191688
• gnomAD v4: 2-214728708-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728708_214728709insG , CM000664.2:g.214728708_214728709insG	GRCh38
NC_000002.11:g.215593432_215593433insG , CM000664.1:g.215593432_215593433insG	GRCh37
NC_000002.10:g.215301677_215301678insG	NCBI36
NG_012047.2:g.85996_85997insC
NG_012047.3:g.86003_86004insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2301_2302insC MANE Select	ENSP00000260947.4:p.Met768HisfsTer4
ENST00000421162.2:c.948_949insC	ENSP00000392245.2:p.Met317HisfsTer4
ENST00000613192.2:c.*364_*365insC	ENSP00000483275.2:n.*364_*365insC
ENST00000613374.5:c.891_892insC	ENSP00000484464.1:p.Met298HisfsTer4
ENST00000613706.5:c.1893_1894insC	ENSP00000484976.2:p.Met632HisfsTer4
ENST00000617164.5:c.2244_2245insC	ENSP00000480470.1:p.Met749HisfsTer4
ENST00000619009.5:c.762_763insC	ENSP00000482293.1:p.Met255HisfsTer4
ENST00000650978.1:c.3676_3677insC
ENST00000260947.8:c.2301_2302insC	ENSP00000260947.4:p.Met768HisfsTer4
ENST00000432456.5:c.444_445insC
ENST00000455743.5:c.*1921_*1922insC	ENSP00000412186.1:n.*1921_*1922insC
ENST00000471590.5:n.636_637insC
ENST00000613192.1:c.471_472insC	ENSP00000483275.1:p.Met158HisfsTer4
ENST00000613374.4:c.891_892insC	ENSP00000484464.1:p.Met298HisfsTer4
ENST00000613706.4:c.948_949insC	ENSP00000484976.1:p.Met317HisfsTer4
ENST00000617164.4:c.2244_2245insC	ENSP00000480470.1:p.Met749HisfsTer4
ENST00000619009.4:c.762_763insC	ENSP00000482293.1:p.Met255HisfsTer4
ENST00000620057.4:c.*967_*968insC	ENSP00000481988.1:n.*967_*968insC
NM_000465.3:c.2301_2302insC	NP_000456.2:p.Met768HisfsTer4
NM_001282543.1:c.2244_2245insC	NP_001269472.1:p.Met749HisfsTer4
NM_001282545.1:c.948_949insC	NP_001269474.1:p.Met317HisfsTer4
NM_001282548.1:c.891_892insC	NP_001269477.1:p.Met298HisfsTer4
NM_001282549.1:c.762_763insC	NP_001269478.1:p.Met255HisfsTer4
NR_104212.1:n.2294_2295insC
NR_104215.1:n.2237_2238insC
NR_104216.1:n.1493_1494insC
XM_011511567.1:c.2247_2248insC	XP_011509869.1:p.Met750HisfsTer4
XM_017004613.1:c.2400_2401insC	XP_016860102.1:p.Met801HisfsTer4
XR_002959322.1:n.2667_2668insC
NM_000465.4:c.2301_2302insC MANE Select	NP_000456.2:p.Met768HisfsTer4
NM_001282543.2:c.2244_2245insC	NP_001269472.1:p.Met749HisfsTer4
NM_001282545.2:c.948_949insC	NP_001269474.1:p.Met317HisfsTer4
NM_001282548.2:c.891_892insC	NP_001269477.1:p.Met298HisfsTer4
NM_001282549.2:c.762_763insC	NP_001269478.1:p.Met255HisfsTer4
NR_104212.2:n.2266_2267insC
NR_104215.2:n.2209_2210insC
NR_104216.2:n.1465_1466insC