Canonical Allele Identifier: CA1327071199
Gene: BARD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214780980_214780983delinsCACT , CM000664.2:g.214780980_214780983delinsCACT GRCh38
NC_000002.11:g.215645704_215645707delinsCACT , CM000664.1:g.215645704_215645707delinsCACT GRCh37
NC_000002.10:g.215353949_215353952delinsCACT NCBI36
NG_012047.2:g.33722_33725delinsAGTG
NG_012047.3:g.33729_33732delinsAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.891_894delinsAGTG MANE Select ENSP00000260947.4:p.Val297=
ENST00000421162.2:c.215+16078_215+16081delinsAGTG ENSP00000392245.2:n.215+16078_215+16081delinsAGTG
ENST00000613192.2:c.158+28429_158+28432delinsAGTG ENSP00000483275.2:n.158+28429_158+28432delinsAGTG
ENST00000613374.5:c.159-28428_159-28425delinsAGTG ENSP00000484464.1:n.159-28428_159-28425delinsAGTG
ENST00000613706.5:c.891_894delinsAGTG ENSP00000484976.2:p.Val297=
ENST00000617164.5:c.834_837delinsAGTG ENSP00000480470.1:p.Val278=
ENST00000619009.5:c.364+11314_364+11317delinsAGTG ENSP00000482293.1:n.364+11314_364+11317delinsAGTG
ENST00000650978.1:c.733_736delinsAGTG
ENST00000260947.8:c.891_894delinsAGTG ENSP00000260947.4:p.Val297=
ENST00000421162.1:c.215+16078_215+16081delinsAGTG ENSP00000392245.1:n.215+16078_215+16081delinsAGTG
ENST00000455743.5:c.*511_*514delinsAGTG ENSP00000412186.1:n.*511_*514delinsAGTG
ENST00000471787.1:n.786_789delinsAGTG
ENST00000613192.1:c.73+28429_73+28432delinsAGTG ENSP00000483275.1:n.73+28429_73+28432delinsAGTG
ENST00000613374.4:c.159-28428_159-28425delinsAGTG ENSP00000484464.1:n.159-28428_159-28425delinsAGTG
ENST00000613706.4:c.215+16078_215+16081delinsAGTG ENSP00000484976.1:n.215+16078_215+16081delinsAGTG
ENST00000617164.4:c.834_837delinsAGTG ENSP00000480470.1:p.Val278=
ENST00000619009.4:c.364+11314_364+11317delinsAGTG ENSP00000482293.1:n.364+11314_364+11317delinsAGTG
ENST00000620057.4:c.364+11314_364+11317delinsAGTG ENSP00000481988.1:n.364+11314_364+11317delinsAGTG
NM_000465.3:c.891_894delinsAGTG NP_000456.2:p.Val297=
NM_001282543.1:c.834_837delinsAGTG NP_001269472.1:p.Val278=
NM_001282545.1:c.215+16078_215+16081delinsAGTG NP_001269474.1:n.215+16078_215+16081delinsAGTG
NM_001282548.1:c.159-28428_159-28425delinsAGTG NP_001269477.1:n.159-28428_159-28425delinsAGTG
NM_001282549.1:c.364+11314_364+11317delinsAGTG NP_001269478.1:n.364+11314_364+11317delinsAGTG
NR_104212.1:n.884_887delinsAGTG
NR_104215.1:n.827_830delinsAGTG
NR_104216.1:n.506+11314_506+11317delinsAGTG
XM_011511567.1:c.837_840delinsAGTG XP_011509869.1:p.Val279=
XM_011511568.1:c.891_894delinsAGTG XP_011509870.1:p.Val297=
XM_017004613.1:c.990_993delinsAGTG XP_016860102.1:p.Val330=
XM_017004614.1:c.990_993delinsAGTG XP_016860103.1:p.Val330=
XR_002959322.1:n.1081_1084delinsAGTG
NM_000465.4:c.891_894delinsAGTG MANE Select NP_000456.2:p.Val297=
NM_001282543.2:c.834_837delinsAGTG NP_001269472.1:p.Val278=
NM_001282545.2:c.215+16078_215+16081delinsAGTG NP_001269474.1:n.215+16078_215+16081delinsAGTG
NM_001282548.2:c.159-28428_159-28425delinsAGTG NP_001269477.1:n.159-28428_159-28425delinsAGTG
NM_001282549.2:c.364+11314_364+11317delinsAGTG NP_001269478.1:n.364+11314_364+11317delinsAGTG
NR_104212.2:n.856_859delinsAGTG
NR_104215.2:n.799_802delinsAGTG
NR_104216.2:n.478+11314_478+11317delinsAGTG