Canonical Allele Identifier: CA2701526105
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs2106135222

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792411del , CM000664.2:g.214792411del GRCh38
NC_000002.11:g.215657135del , CM000664.1:g.215657135del GRCh37
NC_000002.10:g.215365380del NCBI36
NG_012047.2:g.22295del
NG_012047.3:g.22302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260947.9:c.251del MANE Select ENSP00000260947.4:p.Pro84GlnfsTer12
ENST00000421162.2:c.215+4651del ENSP00000392245.2:n.215+4651del
ENST00000613192.2:c.158+17002del ENSP00000483275.2:n.158+17002del
ENST00000613374.5:c.158+17002del ENSP00000484464.1:n.158+17002del
ENST00000613706.5:c.251del ENSP00000484976.2:p.Pro84GlnfsTer12
ENST00000617164.5:c.194del ENSP00000480470.1:p.Pro65GlnfsTer12
ENST00000619009.5:c.251del ENSP00000482293.1:p.Pro84GlnfsTer12
ENST00000650978.1:c.93del
ENST00000260947.8:c.251del ENSP00000260947.4:p.Pro84GlnfsTer12
ENST00000421162.1:c.215+4651del ENSP00000392245.1:n.215+4651del
ENST00000455743.5:c.215+4651del ENSP00000412186.1:n.215+4651del
ENST00000471787.1:n.260-10901del
ENST00000613192.1:c.73+17002del ENSP00000483275.1:n.73+17002del
ENST00000613374.4:c.158+17002del ENSP00000484464.1:n.158+17002del
ENST00000613706.4:c.215+4651del ENSP00000484976.1:n.215+4651del
ENST00000617164.4:c.194del ENSP00000480470.1:p.Pro65GlnfsTer12
ENST00000619009.4:c.251del ENSP00000482293.1:p.Pro84GlnfsTer12
ENST00000620057.4:c.251del ENSP00000481988.1:p.Pro84GlnfsTer12
NM_000465.3:c.251del NP_000456.2:p.Pro84GlnfsTer12
NM_001282543.1:c.194del NP_001269472.1:p.Pro65GlnfsTer12
NM_001282545.1:c.215+4651del NP_001269474.1:n.215+4651del
NM_001282548.1:c.158+17002del NP_001269477.1:n.158+17002del
NM_001282549.1:c.251del NP_001269478.1:p.Pro84GlnfsTer12
NR_104212.1:n.357+4651del
NR_104215.1:n.301-10901del
NR_104216.1:n.393del
XM_011511567.1:c.197del XP_011509869.1:p.Pro66GlnfsTer12
XM_011511568.1:c.251del XP_011509870.1:p.Pro84GlnfsTer12
XM_017004613.1:c.350del XP_016860102.1:p.Pro117GlnfsTer12
XM_017004614.1:c.350del XP_016860103.1:p.Pro117GlnfsTer12
XR_002959322.1:n.441del
NM_000465.4:c.251del MANE Select NP_000456.2:p.Pro84GlnfsTer12
NM_001282543.2:c.194del NP_001269472.1:p.Pro65GlnfsTer12
NM_001282545.2:c.215+4651del NP_001269474.1:n.215+4651del
NM_001282548.2:c.158+17002del NP_001269477.1:n.158+17002del
NM_001282549.2:c.251del NP_001269478.1:p.Pro84GlnfsTer12
NR_104212.2:n.329+4651del
NR_104215.2:n.273-10901del
NR_104216.2:n.365del