Canonical Allele Identifier: CA2662960724
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781054_214781062del , CM000664.2:g.214781054_214781062del GRCh38
NC_000002.11:g.215645778_215645786del , CM000664.1:g.215645778_215645786del GRCh37
NC_000002.10:g.215354023_215354031del NCBI36
NG_012047.2:g.33647_33655del
NG_012047.3:g.33654_33662del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.816_824del MANE Select ENSP00000260947.4:p.Phe272_Ser274del
ENST00000421162.2:c.215+16003_215+16011del ENSP00000392245.2:n.215+16003_215+16011de...
ENST00000613192.2:c.158+28354_158+28362del ENSP00000483275.2:n.158+28354_158+28362de...
ENST00000613374.5:c.158+28354_158+28362del ENSP00000484464.1:n.158+28354_158+28362de...
ENST00000613706.5:c.816_824del ENSP00000484976.2:p.Phe272_Ser274del
ENST00000617164.5:c.759_767del ENSP00000480470.1:p.Phe253_Ser255del
ENST00000619009.5:c.364+11239_364+11247del ENSP00000482293.1:n.364+11239_364+11247de...
ENST00000650978.1:c.658_666del
ENST00000260947.8:c.816_824del ENSP00000260947.4:p.Phe272_Ser274del
ENST00000421162.1:c.215+16003_215+16011del ENSP00000392245.1:n.215+16003_215+16011de...
ENST00000455743.5:c.*436_*444del ENSP00000412186.1:n.*436_*444del
ENST00000471787.1:n.711_719del
ENST00000613192.1:c.73+28354_73+28362del ENSP00000483275.1:n.73+28354_73+28362del
ENST00000613374.4:c.158+28354_158+28362del ENSP00000484464.1:n.158+28354_158+28362de...
ENST00000613706.4:c.215+16003_215+16011del ENSP00000484976.1:n.215+16003_215+16011de...
ENST00000617164.4:c.759_767del ENSP00000480470.1:p.Phe253_Ser255del
ENST00000619009.4:c.364+11239_364+11247del ENSP00000482293.1:n.364+11239_364+11247de...
ENST00000620057.4:c.364+11239_364+11247del ENSP00000481988.1:n.364+11239_364+11247de...
NM_000465.3:c.816_824del NP_000456.2:p.Phe272_Ser274del
NM_001282543.1:c.759_767del NP_001269472.1:p.Phe253_Ser255del
NM_001282545.1:c.215+16003_215+16011del NP_001269474.1:n.215+16003_215+16011del
NM_001282548.1:c.158+28354_158+28362del NP_001269477.1:n.158+28354_158+28362del
NM_001282549.1:c.364+11239_364+11247del NP_001269478.1:n.364+11239_364+11247del
NR_104212.1:n.809_817del
NR_104215.1:n.752_760del
NR_104216.1:n.506+11239_506+11247del
XM_011511567.1:c.762_770del XP_011509869.1:p.Phe254_Ser256del
XM_011511568.1:c.816_824del XP_011509870.1:p.Phe272_Ser274del
XM_017004613.1:c.915_923del XP_016860102.1:p.Phe305_Ser307del
XM_017004614.1:c.915_923del XP_016860103.1:p.Phe305_Ser307del
XR_002959322.1:n.1006_1014del
NM_000465.4:c.816_824del MANE Select NP_000456.2:p.Phe272_Ser274del
NM_001282543.2:c.759_767del NP_001269472.1:p.Phe253_Ser255del
NM_001282545.2:c.215+16003_215+16011del NP_001269474.1:n.215+16003_215+16011del
NM_001282548.2:c.158+28354_158+28362del NP_001269477.1:n.158+28354_158+28362del
NM_001282549.2:c.364+11239_364+11247del NP_001269478.1:n.364+11239_364+11247del
NR_104212.2:n.781_789del
NR_104215.2:n.724_732del
NR_104216.2:n.478+11239_478+11247del