Canonical Allele Identifier: CA2662970047

Gene: BARD1

Linked Data

• gnomAD v4: 2-214728706-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728706_214728707insG , CM000664.2:g.214728706_214728707insG	GRCh38
NC_000002.11:g.215593430_215593431insG , CM000664.1:g.215593430_215593431insG	GRCh37
NC_000002.10:g.215301675_215301676insG	NCBI36
NG_012047.2:g.85998_85999insC
NG_012047.3:g.86005_86006insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.2303_2304insC MANE Select	ENSP00000260947.4:p.Met768IlefsTer4
ENST00000421162.2:c.950_951insC	ENSP00000392245.2:p.Met317IlefsTer4
ENST00000613192.2:c.*366_*367insC	ENSP00000483275.2:n.*366_*367insC
ENST00000613374.5:c.893_894insC	ENSP00000484464.1:p.Met298IlefsTer4
ENST00000613706.5:c.1895_1896insC	ENSP00000484976.2:p.Met632IlefsTer4
ENST00000617164.5:c.2246_2247insC	ENSP00000480470.1:p.Met749IlefsTer4
ENST00000619009.5:c.764_765insC	ENSP00000482293.1:p.Met255IlefsTer4
ENST00000650978.1:c.3678_3679insC
ENST00000260947.8:c.2303_2304insC	ENSP00000260947.4:p.Met768IlefsTer4
ENST00000432456.5:c.446_447insC
ENST00000455743.5:c.*1923_*1924insC	ENSP00000412186.1:n.*1923_*1924insC
ENST00000471590.5:n.638_639insC
ENST00000613192.1:c.473_474insC	ENSP00000483275.1:p.Met158IlefsTer4
ENST00000613374.4:c.893_894insC	ENSP00000484464.1:p.Met298IlefsTer4
ENST00000613706.4:c.950_951insC	ENSP00000484976.1:p.Met317IlefsTer4
ENST00000617164.4:c.2246_2247insC	ENSP00000480470.1:p.Met749IlefsTer4
ENST00000619009.4:c.764_765insC	ENSP00000482293.1:p.Met255IlefsTer4
ENST00000620057.4:c.*969_*970insC	ENSP00000481988.1:n.*969_*970insC
NM_000465.3:c.2303_2304insC	NP_000456.2:p.Met768IlefsTer4
NM_001282543.1:c.2246_2247insC	NP_001269472.1:p.Met749IlefsTer4
NM_001282545.1:c.950_951insC	NP_001269474.1:p.Met317IlefsTer4
NM_001282548.1:c.893_894insC	NP_001269477.1:p.Met298IlefsTer4
NM_001282549.1:c.764_765insC	NP_001269478.1:p.Met255IlefsTer4
NR_104212.1:n.2296_2297insC
NR_104215.1:n.2239_2240insC
NR_104216.1:n.1495_1496insC
XM_011511567.1:c.2249_2250insC	XP_011509869.1:p.Met750IlefsTer4
XM_017004613.1:c.2402_2403insC	XP_016860102.1:p.Met801IlefsTer4
XR_002959322.1:n.2669_2670insC
NM_000465.4:c.2303_2304insC MANE Select	NP_000456.2:p.Met768IlefsTer4
NM_001282543.2:c.2246_2247insC	NP_001269472.1:p.Met749IlefsTer4
NM_001282545.2:c.950_951insC	NP_001269474.1:p.Met317IlefsTer4
NM_001282548.2:c.893_894insC	NP_001269477.1:p.Met298IlefsTer4
NM_001282549.2:c.764_765insC	NP_001269478.1:p.Met255IlefsTer4
NR_104212.2:n.2268_2269insC
NR_104215.2:n.2211_2212insC
NR_104216.2:n.1467_1468insC