Canonical Allele Identifier: CA645523532
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792369_214792388del , CM000664.2:g.214792369_214792388del GRCh38
NC_000002.11:g.215657093_215657112del , CM000664.1:g.215657093_215657112del GRCh37
NC_000002.10:g.215365338_215365357del NCBI36
NG_012047.2:g.22317_22336del
NG_012047.3:g.22324_22343del

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.273_292del MANE Select ENSP00000260947.4:p.Trp91Ter
ENST00000421162.2:c.215+4673_215+4692del ENSP00000392245.2:n.215+4673_215+4692del
ENST00000613192.2:c.158+17024_158+17043del ENSP00000483275.2:n.158+17024_158+17043de...
ENST00000613374.5:c.158+17024_158+17043del ENSP00000484464.1:n.158+17024_158+17043de...
ENST00000613706.5:c.273_292del ENSP00000484976.2:p.Trp91Ter
ENST00000617164.5:c.216_235del ENSP00000480470.1:p.Trp72Ter
ENST00000619009.5:c.273_292del ENSP00000482293.1:p.Trp91Ter
ENST00000650978.1:c.115_134del
ENST00000260947.8:c.273_292del ENSP00000260947.4:p.Trp91Ter
ENST00000421162.1:c.215+4673_215+4692del ENSP00000392245.1:n.215+4673_215+4692del
ENST00000455743.5:c.215+4673_215+4692del ENSP00000412186.1:n.215+4673_215+4692del
ENST00000471787.1:n.260-10879_260-10860del
ENST00000613192.1:c.73+17024_73+17043del ENSP00000483275.1:n.73+17024_73+17043del
ENST00000613374.4:c.158+17024_158+17043del ENSP00000484464.1:n.158+17024_158+17043de...
ENST00000613706.4:c.215+4673_215+4692del ENSP00000484976.1:n.215+4673_215+4692del
ENST00000617164.4:c.216_235del ENSP00000480470.1:p.Trp72Ter
ENST00000619009.4:c.273_292del ENSP00000482293.1:p.Trp91Ter
ENST00000620057.4:c.273_292del ENSP00000481988.1:p.Trp91Ter
NM_000465.3:c.273_292del NP_000456.2:p.Trp91Ter
NM_001282543.1:c.216_235del NP_001269472.1:p.Trp72Ter
NM_001282545.1:c.215+4673_215+4692del NP_001269474.1:n.215+4673_215+4692del
NM_001282548.1:c.158+17024_158+17043del NP_001269477.1:n.158+17024_158+17043del
NM_001282549.1:c.273_292del NP_001269478.1:p.Trp91Ter
NR_104212.1:n.357+4673_357+4692del
NR_104215.1:n.301-10879_301-10860del
NR_104216.1:n.415_434del
XM_011511567.1:c.219_238del XP_011509869.1:p.Trp73Ter
XM_011511568.1:c.273_292del XP_011509870.1:p.Trp91Ter
XM_017004613.1:c.372_391del XP_016860102.1:p.Trp124Ter
XM_017004614.1:c.372_391del XP_016860103.1:p.Trp124Ter
XR_002959322.1:n.463_482del
NM_000465.4:c.273_292del MANE Select NP_000456.2:p.Trp91Ter
NM_001282543.2:c.216_235del NP_001269472.1:p.Trp72Ter
NM_001282545.2:c.215+4673_215+4692del NP_001269474.1:n.215+4673_215+4692del
NM_001282548.2:c.158+17024_158+17043del NP_001269477.1:n.158+17024_158+17043del
NM_001282549.2:c.273_292del NP_001269478.1:p.Trp91Ter
NR_104212.2:n.329+4673_329+4692del
NR_104215.2:n.273-10879_273-10860del
NR_104216.2:n.387_406del