Canonical Allele Identifier: CA1327071453
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781333_214781335delinsCAT , CM000664.2:g.214781333_214781335delinsCAT GRCh38
NC_000002.11:g.215646057_215646059delinsCAT , CM000664.1:g.215646057_215646059delinsCAT GRCh37
NC_000002.10:g.215354302_215354304delinsCAT NCBI36
NG_012047.2:g.33370_33372delinsATG
NG_012047.3:g.33377_33379delinsATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.539_541delinsATG MANE Select ENSP00000260947.4:p.Tyr180=
ENST00000421162.2:c.215+15726_215+15728delinsATG ENSP00000392245.2:n.215+15726_215+15728delinsATG
ENST00000613192.2:c.158+28077_158+28079delinsATG ENSP00000483275.2:n.158+28077_158+28079delinsATG
ENST00000613374.5:c.158+28077_158+28079delinsATG ENSP00000484464.1:n.158+28077_158+28079delinsATG
ENST00000613706.5:c.539_541delinsATG ENSP00000484976.2:p.Tyr180=
ENST00000617164.5:c.482_484delinsATG ENSP00000480470.1:p.Tyr161=
ENST00000619009.5:c.364+10962_364+10964delinsATG ENSP00000482293.1:n.364+10962_364+10964delinsATG
ENST00000650978.1:c.381_383delinsATG
ENST00000260947.8:c.539_541delinsATG ENSP00000260947.4:p.Tyr180=
ENST00000421162.1:c.215+15726_215+15728delinsATG ENSP00000392245.1:n.215+15726_215+15728delinsATG
ENST00000455743.5:c.*159_*161delinsATG ENSP00000412186.1:n.*159_*161delinsATG
ENST00000471787.1:n.434_436delinsATG
ENST00000613192.1:c.73+28077_73+28079delinsATG ENSP00000483275.1:n.73+28077_73+28079delinsATG
ENST00000613374.4:c.158+28077_158+28079delinsATG ENSP00000484464.1:n.158+28077_158+28079delinsATG
ENST00000613706.4:c.215+15726_215+15728delinsATG ENSP00000484976.1:n.215+15726_215+15728delinsATG
ENST00000617164.4:c.482_484delinsATG ENSP00000480470.1:p.Tyr161=
ENST00000619009.4:c.364+10962_364+10964delinsATG ENSP00000482293.1:n.364+10962_364+10964delinsATG
ENST00000620057.4:c.364+10962_364+10964delinsATG ENSP00000481988.1:n.364+10962_364+10964delinsATG
NM_000465.3:c.539_541delinsATG NP_000456.2:p.Tyr180=
NM_001282543.1:c.482_484delinsATG NP_001269472.1:p.Tyr161=
NM_001282545.1:c.215+15726_215+15728delinsATG NP_001269474.1:n.215+15726_215+15728delinsATG
NM_001282548.1:c.158+28077_158+28079delinsATG NP_001269477.1:n.158+28077_158+28079delinsATG
NM_001282549.1:c.364+10962_364+10964delinsATG NP_001269478.1:n.364+10962_364+10964delinsATG
NR_104212.1:n.532_534delinsATG
NR_104215.1:n.475_477delinsATG
NR_104216.1:n.506+10962_506+10964delinsATG
XM_011511567.1:c.485_487delinsATG XP_011509869.1:p.Tyr162=
XM_011511568.1:c.539_541delinsATG XP_011509870.1:p.Tyr180=
XM_017004613.1:c.638_640delinsATG XP_016860102.1:p.Tyr213=
XM_017004614.1:c.638_640delinsATG XP_016860103.1:p.Tyr213=
XR_002959322.1:n.729_731delinsATG
NM_000465.4:c.539_541delinsATG MANE Select NP_000456.2:p.Tyr180=
NM_001282543.2:c.482_484delinsATG NP_001269472.1:p.Tyr161=
NM_001282545.2:c.215+15726_215+15728delinsATG NP_001269474.1:n.215+15726_215+15728delinsATG
NM_001282548.2:c.158+28077_158+28079delinsATG NP_001269477.1:n.158+28077_158+28079delinsATG
NM_001282549.2:c.364+10962_364+10964delinsATG NP_001269478.1:n.364+10962_364+10964delinsATG
NR_104212.2:n.504_506delinsATG
NR_104215.2:n.447_449delinsATG
NR_104216.2:n.478+10962_478+10964delinsATG