Canonical Allele Identifier: CA1327046337
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730388_214730390delinsAAG , CM000664.2:g.214730388_214730390delinsAAG GRCh38
NC_000002.11:g.215595112_215595114delinsAAG , CM000664.1:g.215595112_215595114delinsAAG GRCh37
NC_000002.10:g.215303357_215303359delinsAAG NCBI36
NG_012047.2:g.84315_84317delinsCTT
NG_012047.3:g.84322_84324delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2001+21_2001+23delinsCTT MANE Select ENSP00000260947.4:n.2001+21_2001+23delinsCTT
ENST00000421162.2:c.648+21_648+23delinsCTT ENSP00000392245.2:n.648+21_648+23delinsCTT
ENST00000613192.2:c.*64+21_*64+23delinsCTT ENSP00000483275.2:n.*64+21_*64+23delinsCTT
ENST00000613374.5:c.591+21_591+23delinsCTT ENSP00000484464.1:n.591+21_591+23delinsCTT
ENST00000613706.5:c.1593+21_1593+23delinsCTT ENSP00000484976.2:n.1593+21_1593+23delinsCTT
ENST00000617164.5:c.1944+21_1944+23delinsCTT ENSP00000480470.1:n.1944+21_1944+23delinsCTT
ENST00000619009.5:c.462+21_462+23delinsCTT ENSP00000482293.1:n.462+21_462+23delinsCTT
ENST00000650978.1:c.3376+21_3376+23delinsCTT
ENST00000260947.8:c.2001+21_2001+23delinsCTT ENSP00000260947.4:n.2001+21_2001+23delinsCTT
ENST00000432456.5:c.98+21_98+23delinsCTT
ENST00000455743.5:c.*1621+21_*1621+23delinsCTT ENSP00000412186.1:n.*1621+21_*1621+23delinsCTT
ENST00000471590.5:n.336+21_336+23delinsCTT
ENST00000613192.1:c.171+21_171+23delinsCTT ENSP00000483275.1:n.171+21_171+23delinsCTT
ENST00000613374.4:c.591+21_591+23delinsCTT ENSP00000484464.1:n.591+21_591+23delinsCTT
ENST00000613706.4:c.648+21_648+23delinsCTT ENSP00000484976.1:n.648+21_648+23delinsCTT
ENST00000617164.4:c.1944+21_1944+23delinsCTT ENSP00000480470.1:n.1944+21_1944+23delinsCTT
ENST00000619009.4:c.462+21_462+23delinsCTT ENSP00000482293.1:n.462+21_462+23delinsCTT
ENST00000620057.4:c.*667+21_*667+23delinsCTT ENSP00000481988.1:n.*667+21_*667+23delinsCTT
NM_000465.3:c.2001+21_2001+23delinsCTT NP_000456.2:n.2001+21_2001+23delinsCTT
NM_001282543.1:c.1944+21_1944+23delinsCTT NP_001269472.1:n.1944+21_1944+23delinsCTT
NM_001282545.1:c.648+21_648+23delinsCTT NP_001269474.1:n.648+21_648+23delinsCTT
NM_001282548.1:c.591+21_591+23delinsCTT NP_001269477.1:n.591+21_591+23delinsCTT
NM_001282549.1:c.462+21_462+23delinsCTT NP_001269478.1:n.462+21_462+23delinsCTT
NR_104212.1:n.1994+21_1994+23delinsCTT
NR_104215.1:n.1937+21_1937+23delinsCTT
NR_104216.1:n.1193+21_1193+23delinsCTT
XM_011511567.1:c.1947+21_1947+23delinsCTT XP_011509869.1:n.1947+21_1947+23delinsCTT
XM_017004613.1:c.2100+21_2100+23delinsCTT XP_016860102.1:n.2100+21_2100+23delinsCTT
XR_002959322.1:n.2212_2214delinsCTT
NM_000465.4:c.2001+21_2001+23delinsCTT MANE Select NP_000456.2:n.2001+21_2001+23delinsCTT
NM_001282543.2:c.1944+21_1944+23delinsCTT NP_001269472.1:n.1944+21_1944+23delinsCTT
NM_001282545.2:c.648+21_648+23delinsCTT NP_001269474.1:n.648+21_648+23delinsCTT
NM_001282548.2:c.591+21_591+23delinsCTT NP_001269477.1:n.591+21_591+23delinsCTT
NM_001282549.2:c.462+21_462+23delinsCTT NP_001269478.1:n.462+21_462+23delinsCTT
NR_104212.2:n.1966+21_1966+23delinsCTT
NR_104215.2:n.1909+21_1909+23delinsCTT
NR_104216.2:n.1165+21_1165+23delinsCTT