Canonical Allele Identifier: CA1327076692
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792371A= , CM000664.2:g.214792371A= GRCh38
NC_000002.11:g.215657095A= , CM000664.1:g.215657095A= GRCh37
NC_000002.10:g.215365340A= NCBI36
NG_012047.2:g.22334T=
NG_012047.3:g.22341T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.290T= MANE Select ENSP00000260947.4:p.Ile97=
ENST00000421162.2:c.215+4690T= ENSP00000392245.2:n.215+4690T=
ENST00000613192.2:c.158+17041T= ENSP00000483275.2:n.158+17041T=
ENST00000613374.5:c.158+17041T= ENSP00000484464.1:n.158+17041T=
ENST00000613706.5:c.290T= ENSP00000484976.2:p.Ile97=
ENST00000617164.5:c.233T= ENSP00000480470.1:p.Ile78=
ENST00000619009.5:c.290T= ENSP00000482293.1:p.Ile97=
ENST00000650978.1:c.132T=
ENST00000260947.8:c.290T= ENSP00000260947.4:p.Ile97=
ENST00000421162.1:c.215+4690T= ENSP00000392245.1:n.215+4690T=
ENST00000455743.5:c.215+4690T= ENSP00000412186.1:n.215+4690T=
ENST00000471787.1:n.260-10862T=
ENST00000613192.1:c.73+17041T= ENSP00000483275.1:n.73+17041T=
ENST00000613374.4:c.158+17041T= ENSP00000484464.1:n.158+17041T=
ENST00000613706.4:c.215+4690T= ENSP00000484976.1:n.215+4690T=
ENST00000617164.4:c.233T= ENSP00000480470.1:p.Ile78=
ENST00000619009.4:c.290T= ENSP00000482293.1:p.Ile97=
ENST00000620057.4:c.290T= ENSP00000481988.1:p.Ile97=
NM_000465.3:c.290T= NP_000456.2:p.Ile97=
NM_001282543.1:c.233T= NP_001269472.1:p.Ile78=
NM_001282545.1:c.215+4690T= NP_001269474.1:n.215+4690T=
NM_001282548.1:c.158+17041T= NP_001269477.1:n.158+17041T=
NM_001282549.1:c.290T= NP_001269478.1:p.Ile97=
NR_104212.1:n.357+4690T=
NR_104215.1:n.301-10862T=
NR_104216.1:n.432T=
XM_011511567.1:c.236T= XP_011509869.1:p.Ile79=
XM_011511568.1:c.290T= XP_011509870.1:p.Ile97=
XM_017004613.1:c.389T= XP_016860102.1:p.Ile130=
XM_017004614.1:c.389T= XP_016860103.1:p.Ile130=
XR_002959322.1:n.480T=
NM_000465.4:c.290T= MANE Select NP_000456.2:p.Ile97=
NM_001282543.2:c.233T= NP_001269472.1:p.Ile78=
NM_001282545.2:c.215+4690T= NP_001269474.1:n.215+4690T=
NM_001282548.2:c.158+17041T= NP_001269477.1:n.158+17041T=
NM_001282549.2:c.290T= NP_001269478.1:p.Ile97=
NR_104212.2:n.329+4690T=
NR_104215.2:n.273-10862T=
NR_104216.2:n.404T=