Canonical Allele Identifier: CA1327046338
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214730390G= , CM000664.2:g.214730390G= GRCh38
NC_000002.11:g.215595114G= , CM000664.1:g.215595114G= GRCh37
NC_000002.10:g.215303359G= NCBI36
NG_012047.2:g.84315C=
NG_012047.3:g.84322C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.2001+21C= MANE Select ENSP00000260947.4:n.2001+21C=
ENST00000421162.2:c.648+21C= ENSP00000392245.2:n.648+21C=
ENST00000613192.2:c.*64+21C= ENSP00000483275.2:n.*64+21C=
ENST00000613374.5:c.591+21C= ENSP00000484464.1:n.591+21C=
ENST00000613706.5:c.1593+21C= ENSP00000484976.2:n.1593+21C=
ENST00000617164.5:c.1944+21C= ENSP00000480470.1:n.1944+21C=
ENST00000619009.5:c.462+21C= ENSP00000482293.1:n.462+21C=
ENST00000650978.1:c.3376+21C=
ENST00000260947.8:c.2001+21C= ENSP00000260947.4:n.2001+21C=
ENST00000432456.5:c.98+21C=
ENST00000455743.5:c.*1621+21C= ENSP00000412186.1:n.*1621+21C=
ENST00000471590.5:n.336+21C=
ENST00000613192.1:c.171+21C= ENSP00000483275.1:n.171+21C=
ENST00000613374.4:c.591+21C= ENSP00000484464.1:n.591+21C=
ENST00000613706.4:c.648+21C= ENSP00000484976.1:n.648+21C=
ENST00000617164.4:c.1944+21C= ENSP00000480470.1:n.1944+21C=
ENST00000619009.4:c.462+21C= ENSP00000482293.1:n.462+21C=
ENST00000620057.4:c.*667+21C= ENSP00000481988.1:n.*667+21C=
NM_000465.3:c.2001+21C= NP_000456.2:n.2001+21C=
NM_001282543.1:c.1944+21C= NP_001269472.1:n.1944+21C=
NM_001282545.1:c.648+21C= NP_001269474.1:n.648+21C=
NM_001282548.1:c.591+21C= NP_001269477.1:n.591+21C=
NM_001282549.1:c.462+21C= NP_001269478.1:n.462+21C=
NR_104212.1:n.1994+21C=
NR_104215.1:n.1937+21C=
NR_104216.1:n.1193+21C=
XM_011511567.1:c.1947+21C= XP_011509869.1:n.1947+21C=
XM_017004613.1:c.2100+21C= XP_016860102.1:n.2100+21C=
XR_002959322.1:n.2212C=
NM_000465.4:c.2001+21C= MANE Select NP_000456.2:n.2001+21C=
NM_001282543.2:c.1944+21C= NP_001269472.1:n.1944+21C=
NM_001282545.2:c.648+21C= NP_001269474.1:n.648+21C=
NM_001282548.2:c.591+21C= NP_001269477.1:n.591+21C=
NM_001282549.2:c.462+21C= NP_001269478.1:n.462+21C=
NR_104212.2:n.1966+21C=
NR_104215.2:n.1909+21C=
NR_104216.2:n.1165+21C=