Canonical Allele Identifier: CA1327076667
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792340A= , CM000664.2:g.214792340A= GRCh38
NC_000002.11:g.215657064A= , CM000664.1:g.215657064A= GRCh37
NC_000002.10:g.215365309A= NCBI36
NG_012047.2:g.22365T=
NG_012047.3:g.22372T=

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.321T= MANE Select ENSP00000260947.4:p.Leu107=
ENST00000421162.2:c.215+4721T= ENSP00000392245.2:n.215+4721T=
ENST00000613192.2:c.158+17072T= ENSP00000483275.2:n.158+17072T=
ENST00000613374.5:c.158+17072T= ENSP00000484464.1:n.158+17072T=
ENST00000613706.5:c.321T= ENSP00000484976.2:p.Leu107=
ENST00000617164.5:c.264T= ENSP00000480470.1:p.Leu88=
ENST00000619009.5:c.321T= ENSP00000482293.1:p.Leu107=
ENST00000650978.1:c.163T=
ENST00000260947.8:c.321T= ENSP00000260947.4:p.Leu107=
ENST00000421162.1:c.215+4721T= ENSP00000392245.1:n.215+4721T=
ENST00000455743.5:c.215+4721T= ENSP00000412186.1:n.215+4721T=
ENST00000471787.1:n.260-10831T=
ENST00000613192.1:c.73+17072T= ENSP00000483275.1:n.73+17072T=
ENST00000613374.4:c.158+17072T= ENSP00000484464.1:n.158+17072T=
ENST00000613706.4:c.215+4721T= ENSP00000484976.1:n.215+4721T=
ENST00000617164.4:c.264T= ENSP00000480470.1:p.Leu88=
ENST00000619009.4:c.321T= ENSP00000482293.1:p.Leu107=
ENST00000620057.4:c.321T= ENSP00000481988.1:p.Leu107=
NM_000465.3:c.321T= NP_000456.2:p.Leu107=
NM_001282543.1:c.264T= NP_001269472.1:p.Leu88=
NM_001282545.1:c.215+4721T= NP_001269474.1:n.215+4721T=
NM_001282548.1:c.158+17072T= NP_001269477.1:n.158+17072T=
NM_001282549.1:c.321T= NP_001269478.1:p.Leu107=
NR_104212.1:n.357+4721T=
NR_104215.1:n.301-10831T=
NR_104216.1:n.463T=
XM_011511567.1:c.267T= XP_011509869.1:p.Leu89=
XM_011511568.1:c.321T= XP_011509870.1:p.Leu107=
XM_017004613.1:c.420T= XP_016860102.1:p.Leu140=
XM_017004614.1:c.420T= XP_016860103.1:p.Leu140=
XR_002959322.1:n.511T=
NM_000465.4:c.321T= MANE Select NP_000456.2:p.Leu107=
NM_001282543.2:c.264T= NP_001269472.1:p.Leu88=
NM_001282545.2:c.215+4721T= NP_001269474.1:n.215+4721T=
NM_001282548.2:c.158+17072T= NP_001269477.1:n.158+17072T=
NM_001282549.2:c.321T= NP_001269478.1:p.Leu107=
NR_104212.2:n.329+4721T=
NR_104215.2:n.273-10831T=
NR_104216.2:n.435T=