Canonical Allele Identifier: CA1327071129
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780874_214780876delinsTAG , CM000664.2:g.214780874_214780876delinsTAG GRCh38
NC_000002.11:g.215645598_215645600delinsTAG , CM000664.1:g.215645598_215645600delinsTAG GRCh37
NC_000002.10:g.215353843_215353845delinsTAG NCBI36
NG_012047.2:g.33829_33831delinsCTA
NG_012047.3:g.33836_33838delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.998_1000delinsCTA MANE Select ENSP00000260947.4:p.Ser333=
ENST00000421162.2:c.215+16185_215+16187delinsCTA ENSP00000392245.2:n.215+16185_215+16187delinsCTA
ENST00000613192.2:c.158+28536_158+28538delinsCTA ENSP00000483275.2:n.158+28536_158+28538delinsCTA
ENST00000613374.5:c.159-28321_159-28319delinsCTA ENSP00000484464.1:n.159-28321_159-28319delinsCTA
ENST00000613706.5:c.906+92_906+94delinsCTA ENSP00000484976.2:n.906+92_906+94delinsCTA
ENST00000617164.5:c.941_943delinsCTA ENSP00000480470.1:p.Ser314=
ENST00000619009.5:c.364+11421_364+11423delinsCTA ENSP00000482293.1:n.364+11421_364+11423delinsCTA
ENST00000650978.1:c.840_842delinsCTA
ENST00000260947.8:c.998_1000delinsCTA ENSP00000260947.4:p.Ser333=
ENST00000421162.1:c.215+16185_215+16187delinsCTA ENSP00000392245.1:n.215+16185_215+16187delinsCTA
ENST00000455743.5:c.*618_*620delinsCTA ENSP00000412186.1:n.*618_*620delinsCTA
ENST00000613192.1:c.73+28536_73+28538delinsCTA ENSP00000483275.1:n.73+28536_73+28538delinsCTA
ENST00000613374.4:c.159-28321_159-28319delinsCTA ENSP00000484464.1:n.159-28321_159-28319delinsCTA
ENST00000613706.4:c.215+16185_215+16187delinsCTA ENSP00000484976.1:n.215+16185_215+16187delinsCTA
ENST00000617164.4:c.941_943delinsCTA ENSP00000480470.1:p.Ser314=
ENST00000619009.4:c.364+11421_364+11423delinsCTA ENSP00000482293.1:n.364+11421_364+11423delinsCTA
ENST00000620057.4:c.364+11421_364+11423delinsCTA ENSP00000481988.1:n.364+11421_364+11423delinsCTA
NM_000465.3:c.998_1000delinsCTA NP_000456.2:p.Ser333=
NM_001282543.1:c.941_943delinsCTA NP_001269472.1:p.Ser314=
NM_001282545.1:c.215+16185_215+16187delinsCTA NP_001269474.1:n.215+16185_215+16187delinsCTA
NM_001282548.1:c.159-28321_159-28319delinsCTA NP_001269477.1:n.159-28321_159-28319delinsCTA
NM_001282549.1:c.364+11421_364+11423delinsCTA NP_001269478.1:n.364+11421_364+11423delinsCTA
NR_104212.1:n.991_993delinsCTA
NR_104215.1:n.934_936delinsCTA
NR_104216.1:n.506+11421_506+11423delinsCTA
XM_011511567.1:c.944_946delinsCTA XP_011509869.1:p.Ser315=
XM_011511568.1:c.998_1000delinsCTA XP_011509870.1:p.Ser333=
XM_017004613.1:c.1097_1099delinsCTA XP_016860102.1:p.Ser366=
XM_017004614.1:c.1097_1099delinsCTA XP_016860103.1:p.Ser366=
XR_002959322.1:n.1188_1190delinsCTA
NM_000465.4:c.998_1000delinsCTA MANE Select NP_000456.2:p.Ser333=
NM_001282543.2:c.941_943delinsCTA NP_001269472.1:p.Ser314=
NM_001282545.2:c.215+16185_215+16187delinsCTA NP_001269474.1:n.215+16185_215+16187delinsCTA
NM_001282548.2:c.159-28321_159-28319delinsCTA NP_001269477.1:n.159-28321_159-28319delinsCTA
NM_001282549.2:c.364+11421_364+11423delinsCTA NP_001269478.1:n.364+11421_364+11423delinsCTA
NR_104212.2:n.963_965delinsCTA
NR_104215.2:n.906_908delinsCTA
NR_104216.2:n.478+11421_478+11423delinsCTA