Canonical Allele Identifier: CA2577234214
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728593_214728594del , CM000664.2:g.214728593_214728594del GRCh38
NC_000002.11:g.215593317_215593318del , CM000664.1:g.215593317_215593318del GRCh37
NC_000002.10:g.215301562_215301563del NCBI36
NG_012047.2:g.86114_86115del
NG_012047.3:g.86121_86122del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.*85_*86del MANE Select ENSP00000260947.4:n.*85_*86del
ENST00000613374.5:c.*85_*86del ENSP00000484464.1:n.*85_*86del
ENST00000613706.5:c.*85_*86del ENSP00000484976.2:n.*85_*86del
ENST00000617164.5:c.*85_*86del ENSP00000480470.1:n.*85_*86del
ENST00000619009.5:c.*85_*86del ENSP00000482293.1:n.*85_*86del
ENST00000650978.1:c.3794_3795del
ENST00000260947.8:c.*85_*86del ENSP00000260947.4:n.*85_*86del
ENST00000432456.5:c.562_563del
ENST00000471590.5:n.754_755del
ENST00000613374.4:c.*85_*86del ENSP00000484464.1:n.*85_*86del
ENST00000613706.4:c.*85_*86del ENSP00000484976.1:n.*85_*86del
ENST00000617164.4:c.*85_*86del ENSP00000480470.1:n.*85_*86del
ENST00000619009.4:c.*85_*86del ENSP00000482293.1:n.*85_*86del
NM_000465.3:c.*85_*86del NP_000456.2:n.*85_*86del
NM_001282543.1:c.*85_*86del NP_001269472.1:n.*85_*86del
NM_001282545.1:c.*85_*86del NP_001269474.1:n.*85_*86del
NM_001282548.1:c.*85_*86del NP_001269477.1:n.*85_*86del
NM_001282549.1:c.*85_*86del NP_001269478.1:n.*85_*86del
NR_104212.1:n.2412_2413del
NR_104215.1:n.2355_2356del
NR_104216.1:n.1611_1612del
XM_011511567.1:c.*85_*86del XP_011509869.1:n.*85_*86del
XM_017004613.1:c.*85_*86del XP_016860102.1:n.*85_*86del
XR_002959322.1:n.2785_2786del
NM_000465.4:c.*85_*86del MANE Select NP_000456.2:n.*85_*86del
NM_001282543.2:c.*85_*86del NP_001269472.1:n.*85_*86del
NM_001282545.2:c.*85_*86del NP_001269474.1:n.*85_*86del
NM_001282548.2:c.*85_*86del NP_001269477.1:n.*85_*86del
NM_001282549.2:c.*85_*86del NP_001269478.1:n.*85_*86del
NR_104212.2:n.2384_2385del
NR_104215.2:n.2327_2328del
NR_104216.2:n.1583_1584del