Canonical Allele Identifier: CA2662972414
Gene: BARD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214797036_214797040del , CM000664.2:g.214797036_214797040del GRCh38
NC_000002.11:g.215661760_215661764del , CM000664.1:g.215661760_215661764del GRCh37
NC_000002.10:g.215370005_215370009del NCBI36
NG_012047.2:g.17665_17669del
NG_012047.3:g.17672_17676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.215+21_215+25del MANE Select ENSP00000260947.4:n.215+21_215+25del
ENST00000421162.2:c.215+21_215+25del ENSP00000392245.2:n.215+21_215+25del
ENST00000613192.2:c.158+12372_158+12376del ENSP00000483275.2:n.158+12372_158+12376del
ENST00000613374.5:c.158+12372_158+12376del ENSP00000484464.1:n.158+12372_158+12376del
ENST00000613706.5:c.215+21_215+25del ENSP00000484976.2:n.215+21_215+25del
ENST00000617164.5:c.159-4595_159-4591del ENSP00000480470.1:n.159-4595_159-4591del
ENST00000619009.5:c.215+21_215+25del ENSP00000482293.1:n.215+21_215+25del
ENST00000650978.1:c.57+21_57+25del
ENST00000260947.8:c.215+21_215+25del ENSP00000260947.4:n.215+21_215+25del
ENST00000421162.1:c.215+21_215+25del ENSP00000392245.1:n.215+21_215+25del
ENST00000455743.5:c.215+21_215+25del ENSP00000412186.1:n.215+21_215+25del
ENST00000471787.1:n.259+12372_259+12376del
ENST00000479904.1:n.327_331del
ENST00000613192.1:c.73+12372_73+12376del ENSP00000483275.1:n.73+12372_73+12376del
ENST00000613374.4:c.158+12372_158+12376del ENSP00000484464.1:n.158+12372_158+12376del
ENST00000613706.4:c.215+21_215+25del ENSP00000484976.1:n.215+21_215+25del
ENST00000617164.4:c.159-4595_159-4591del ENSP00000480470.1:n.159-4595_159-4591del
ENST00000619009.4:c.215+21_215+25del ENSP00000482293.1:n.215+21_215+25del
ENST00000620057.4:c.215+21_215+25del ENSP00000481988.1:n.215+21_215+25del
NM_000465.3:c.215+21_215+25del NP_000456.2:n.215+21_215+25del
NM_001282543.1:c.159-4595_159-4591del NP_001269472.1:n.159-4595_159-4591del
NM_001282545.1:c.215+21_215+25del NP_001269474.1:n.215+21_215+25del
NM_001282548.1:c.158+12372_158+12376del NP_001269477.1:n.158+12372_158+12376del
NM_001282549.1:c.215+21_215+25del NP_001269478.1:n.215+21_215+25del
NR_104212.1:n.357+21_357+25del
NR_104215.1:n.300+12372_300+12376del
NR_104216.1:n.357+21_357+25del
XM_011511567.1:c.161+21_161+25del XP_011509869.1:n.161+21_161+25del
XM_011511568.1:c.215+21_215+25del XP_011509870.1:n.215+21_215+25del
XM_017004613.1:c.215+21_215+25del XP_016860102.1:n.215+21_215+25del
XM_017004614.1:c.215+21_215+25del XP_016860103.1:n.215+21_215+25del
XR_002959322.1:n.306+21_306+25del
NM_000465.4:c.215+21_215+25del MANE Select NP_000456.2:n.215+21_215+25del
NM_001282543.2:c.159-4595_159-4591del NP_001269472.1:n.159-4595_159-4591del
NM_001282545.2:c.215+21_215+25del NP_001269474.1:n.215+21_215+25del
NM_001282548.2:c.158+12372_158+12376del NP_001269477.1:n.158+12372_158+12376del
NM_001282549.2:c.215+21_215+25del NP_001269478.1:n.215+21_215+25del
NR_104212.2:n.329+21_329+25del
NR_104215.2:n.272+12372_272+12376del
NR_104216.2:n.329+21_329+25del