Canonical Allele Identifier: CA764557263
Gene: BARD1 HGNC NCBI

Linked Data

dbSNP Id: rs58253676

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214728552_214728553insTA , CM000664.2:g.214728552_214728553insTA GRCh38
NC_000002.11:g.215593276_215593277insTA , CM000664.1:g.215593276_215593277insTA GRCh37
NC_000002.10:g.215301521_215301522insTA NCBI36
NG_012047.2:g.86152_86153insTA
NG_012047.3:g.86159_86160insTA

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.*123_*124insTA MANE Select ENSP00000260947.4:p.=
ENST00000260947.8:c.*123_*124insTA ENSP00000260947.4:p.=
ENST00000432456.5:n.600_601insTA
ENST00000471590.5:n.792_793insTA
ENST00000613374.4:c.*123_*124insTA ENSP00000484464.1:p.=
ENST00000613706.4:c.*123_*124insTA ENSP00000484976.1:p.=
ENST00000617164.4:c.*123_*124insTA ENSP00000480470.1:p.=
ENST00000619009.4:c.*123_*124insTA ENSP00000482293.1:p.=
NM_000465.3:c.*123_*124insTA NP_000456.2:p.=
NM_001282543.1:c.*123_*124insTA NP_001269472.1:p.=
NM_001282545.1:c.*123_*124insTA NP_001269474.1:p.=
NM_001282548.1:c.*123_*124insTA NP_001269477.1:p.=
NM_001282549.1:c.*123_*124insTA NP_001269478.1:p.=
NR_104212.1:n.2450_2451insTA
NR_104215.1:n.2393_2394insTA
NR_104216.1:n.1649_1650insTA
XM_011511567.1:c.*123_*124insTA XP_011509869.1:p.=
XM_017004613.1:c.*123_*124insTA XP_016860102.1:p.=
XR_002959322.1:n.2823_2824insTA
NM_000465.4:c.*123_*124insTA MANE Select NP_000456.2:p.=
NM_001282543.2:c.*123_*124insTA NP_001269472.1:p.=
NM_001282545.2:c.*123_*124insTA NP_001269474.1:p.=
NM_001282548.2:c.*123_*124insTA NP_001269477.1:p.=
NM_001282549.2:c.*123_*124insTA NP_001269478.1:p.=
NR_104212.2:n.2422_2423insTA
NR_104215.2:n.2365_2366insTA
NR_104216.2:n.1621_1622insTA