Canonical Allele Identifier: CA2845180775
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730365_214730366del , CM000664.2:g.214730365_214730366del GRCh38
NC_000002.11:g.215595089_215595090del , CM000664.1:g.215595089_215595090del GRCh37
NC_000002.10:g.215303334_215303335del NCBI36
NG_012047.2:g.84339_84340del
NG_012047.3:g.84346_84347del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2001+45_2001+46del MANE Select ENSP00000260947.4:n.2001+45_2001+46del
ENST00000421162.2:c.648+45_648+46del ENSP00000392245.2:n.648+45_648+46del
ENST00000613192.2:c.*64+45_*64+46del ENSP00000483275.2:n.*64+45_*64+46del
ENST00000613374.5:c.591+45_591+46del ENSP00000484464.1:n.591+45_591+46del
ENST00000613706.5:c.1593+45_1593+46del ENSP00000484976.2:n.1593+45_1593+46del
ENST00000617164.5:c.1944+45_1944+46del ENSP00000480470.1:n.1944+45_1944+46del
ENST00000619009.5:c.462+45_462+46del ENSP00000482293.1:n.462+45_462+46del
ENST00000650978.1:c.3376+45_3376+46del
ENST00000260947.8:c.2001+45_2001+46del ENSP00000260947.4:n.2001+45_2001+46del
ENST00000432456.5:c.98+45_98+46del
ENST00000455743.5:c.*1621+45_*1621+46del ENSP00000412186.1:n.*1621+45_*1621+46del
ENST00000471590.5:n.336+45_336+46del
ENST00000613192.1:c.171+45_171+46del ENSP00000483275.1:n.171+45_171+46del
ENST00000613374.4:c.591+45_591+46del ENSP00000484464.1:n.591+45_591+46del
ENST00000613706.4:c.648+45_648+46del ENSP00000484976.1:n.648+45_648+46del
ENST00000617164.4:c.1944+45_1944+46del ENSP00000480470.1:n.1944+45_1944+46del
ENST00000619009.4:c.462+45_462+46del ENSP00000482293.1:n.462+45_462+46del
ENST00000620057.4:c.*667+45_*667+46del ENSP00000481988.1:n.*667+45_*667+46del
NM_000465.3:c.2001+45_2001+46del NP_000456.2:n.2001+45_2001+46del
NM_001282543.1:c.1944+45_1944+46del NP_001269472.1:n.1944+45_1944+46del
NM_001282545.1:c.648+45_648+46del NP_001269474.1:n.648+45_648+46del
NM_001282548.1:c.591+45_591+46del NP_001269477.1:n.591+45_591+46del
NM_001282549.1:c.462+45_462+46del NP_001269478.1:n.462+45_462+46del
NR_104212.1:n.1994+45_1994+46del
NR_104215.1:n.1937+45_1937+46del
NR_104216.1:n.1193+45_1193+46del
XM_011511567.1:c.1947+45_1947+46del XP_011509869.1:n.1947+45_1947+46del
XM_017004613.1:c.2100+45_2100+46del XP_016860102.1:n.2100+45_2100+46del
XR_002959322.1:n.2236_2237del
NM_000465.4:c.2001+45_2001+46del MANE Select NP_000456.2:n.2001+45_2001+46del
NM_001282543.2:c.1944+45_1944+46del NP_001269472.1:n.1944+45_1944+46del
NM_001282545.2:c.648+45_648+46del NP_001269474.1:n.648+45_648+46del
NM_001282548.2:c.591+45_591+46del NP_001269477.1:n.591+45_591+46del
NM_001282549.2:c.462+45_462+46del NP_001269478.1:n.462+45_462+46del
NR_104212.2:n.1966+45_1966+46del
NR_104215.2:n.1909+45_1909+46del
NR_104216.2:n.1165+45_1165+46del