Canonical Allele Identifier: CA1327045368

Gene: BARD1

Linked Data

• dbSNP Id: rs33960630
• gnomAD v4: 2-214728537-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728537_214728538insAT , CM000664.2:g.214728537_214728538insAT	GRCh38
NC_000002.11:g.215593261_215593262insAT , CM000664.1:g.215593261_215593262insAT	GRCh37
NC_000002.10:g.215301506_215301507insAT	NCBI36
NG_012047.2:g.86167_86168insAT
NG_012047.3:g.86174_86175insAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*138_*139insAT MANE Select	ENSP00000260947.4:n.*138_*139insAT
ENST00000260947.8:c.*138_*139insAT	ENSP00000260947.4:n.*138_*139insAT
ENST00000471590.5:n.807_808insAT
ENST00000613374.4:c.*138_*139insAT	ENSP00000484464.1:n.*138_*139insAT
ENST00000613706.4:c.*138_*139insAT	ENSP00000484976.1:n.*138_*139insAT
ENST00000617164.4:c.*138_*139insAT	ENSP00000480470.1:n.*138_*139insAT
ENST00000619009.4:c.*138_*139insAT	ENSP00000482293.1:n.*138_*139insAT
NM_000465.3:c.*138_*139insAT	NP_000456.2:n.*138_*139insAT
NM_001282543.1:c.*138_*139insAT	NP_001269472.1:n.*138_*139insAT
NM_001282545.1:c.*138_*139insAT	NP_001269474.1:n.*138_*139insAT
NM_001282548.1:c.*138_*139insAT	NP_001269477.1:n.*138_*139insAT
NM_001282549.1:c.*138_*139insAT	NP_001269478.1:n.*138_*139insAT
NR_104212.1:n.2465_2466insAT
NR_104215.1:n.2408_2409insAT
NR_104216.1:n.1664_1665insAT
XM_011511567.1:c.*138_*139insAT	XP_011509869.1:n.*138_*139insAT
XM_017004613.1:c.*138_*139insAT	XP_016860102.1:n.*138_*139insAT
NM_000465.4:c.*138_*139insAT MANE Select	NP_000456.2:n.*138_*139insAT
NM_001282543.2:c.*138_*139insAT	NP_001269472.1:n.*138_*139insAT
NM_001282545.2:c.*138_*139insAT	NP_001269474.1:n.*138_*139insAT
NM_001282548.2:c.*138_*139insAT	NP_001269477.1:n.*138_*139insAT
NM_001282549.2:c.*138_*139insAT	NP_001269478.1:n.*138_*139insAT
NR_104212.2:n.2437_2438insAT
NR_104215.2:n.2380_2381insAT
NR_104216.2:n.1636_1637insAT