Canonical Allele Identifier: CA2580065660
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2450484
ClinVar RCV Id: RCV003176976

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780925_214780927delinsTT , CM000664.2:g.214780925_214780927delinsTT GRCh38
NC_000002.11:g.215645649_215645651delinsTT , CM000664.1:g.215645649_215645651delinsTT GRCh37
NC_000002.10:g.215353894_215353896delinsTT NCBI36
NG_012047.2:g.33778_33780delinsAA
NG_012047.3:g.33785_33787delinsAA

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.947_949delinsAA MANE Select ENSP00000260947.4:p.Leu316Ter
ENST00000421162.2:c.215+16134_215+16136delinsAA ENSP00000392245.2:n.215+16134_215+16136de...
ENST00000613192.2:c.158+28485_158+28487delinsAA ENSP00000483275.2:n.158+28485_158+28487de...
ENST00000613374.5:c.159-28372_159-28370delinsAA ENSP00000484464.1:n.159-28372_159-28370de...
ENST00000613706.5:c.906+41_906+43delinsAA ENSP00000484976.2:n.906+41_906+43delinsAA...
ENST00000617164.5:c.890_892delinsAA ENSP00000480470.1:p.Leu297Ter
ENST00000619009.5:c.364+11370_364+11372delinsAA ENSP00000482293.1:n.364+11370_364+11372de...
ENST00000650978.1:c.789_791delinsAA
ENST00000260947.8:c.947_949delinsAA ENSP00000260947.4:p.Leu316Ter
ENST00000421162.1:c.215+16134_215+16136delinsAA ENSP00000392245.1:n.215+16134_215+16136de...
ENST00000455743.5:c.*567_*569delinsAA ENSP00000412186.1:n.*567_*569delinsAA
ENST00000471787.1:n.842_844delinsAA
ENST00000613192.1:c.73+28485_73+28487delinsAA ENSP00000483275.1:n.73+28485_73+28487deli...
ENST00000613374.4:c.159-28372_159-28370delinsAA ENSP00000484464.1:n.159-28372_159-28370de...
ENST00000613706.4:c.215+16134_215+16136delinsAA ENSP00000484976.1:n.215+16134_215+16136de...
ENST00000617164.4:c.890_892delinsAA ENSP00000480470.1:p.Leu297Ter
ENST00000619009.4:c.364+11370_364+11372delinsAA ENSP00000482293.1:n.364+11370_364+11372de...
ENST00000620057.4:c.364+11370_364+11372delinsAA ENSP00000481988.1:n.364+11370_364+11372de...
NM_000465.3:c.947_949delinsAA NP_000456.2:p.Leu316Ter
NM_001282543.1:c.890_892delinsAA NP_001269472.1:p.Leu297Ter
NM_001282545.1:c.215+16134_215+16136delinsAA NP_001269474.1:n.215+16134_215+16136delin...
NM_001282548.1:c.159-28372_159-28370delinsAA NP_001269477.1:n.159-28372_159-28370delin...
NM_001282549.1:c.364+11370_364+11372delinsAA NP_001269478.1:n.364+11370_364+11372delin...
NR_104212.1:n.940_942delinsAA
NR_104215.1:n.883_885delinsAA
NR_104216.1:n.506+11370_506+11372delinsAA
XM_011511567.1:c.893_895delinsAA XP_011509869.1:p.Leu298Ter
XM_011511568.1:c.947_949delinsAA XP_011509870.1:p.Leu316Ter
XM_017004613.1:c.1046_1048delinsAA XP_016860102.1:p.Leu349Ter
XM_017004614.1:c.1046_1048delinsAA XP_016860103.1:p.Leu349Ter
XR_002959322.1:n.1137_1139delinsAA
NM_000465.4:c.947_949delinsAA MANE Select NP_000456.2:p.Leu316Ter
NM_001282543.2:c.890_892delinsAA NP_001269472.1:p.Leu297Ter
NM_001282545.2:c.215+16134_215+16136delinsAA NP_001269474.1:n.215+16134_215+16136delin...
NM_001282548.2:c.159-28372_159-28370delinsAA NP_001269477.1:n.159-28372_159-28370delin...
NM_001282549.2:c.364+11370_364+11372delinsAA NP_001269478.1:n.364+11370_364+11372delin...
NR_104212.2:n.912_914delinsAA
NR_104215.2:n.855_857delinsAA
NR_104216.2:n.478+11370_478+11372delinsAA