Canonical Allele Identifier: CA764557231

Gene: BARD1

Linked Data

• dbSNP Id: rs33960630
• gnomAD v3: 2-214728537-C-CGT
• gnomAD v4: 2-214728537-C-CGT
• MyVariant Identifiers: chr2:g.215593261_215593262insGT (hg19) ; chr2:g.214728537_214728538insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728537_214728538insGT , CM000664.2:g.214728537_214728538insGT	GRCh38
NC_000002.11:g.215593261_215593262insGT , CM000664.1:g.215593261_215593262insGT	GRCh37
NC_000002.10:g.215301506_215301507insGT	NCBI36
NG_012047.2:g.86167_86168insAC
NG_012047.3:g.86174_86175insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*138_*139insAC MANE Select	ENSP00000260947.4:n.*138_*139insAC
ENST00000260947.8:c.*138_*139insAC	ENSP00000260947.4:n.*138_*139insAC
ENST00000471590.5:n.807_808insAC
ENST00000613374.4:c.*138_*139insAC	ENSP00000484464.1:n.*138_*139insAC
ENST00000613706.4:c.*138_*139insAC	ENSP00000484976.1:n.*138_*139insAC
ENST00000617164.4:c.*138_*139insAC	ENSP00000480470.1:n.*138_*139insAC
ENST00000619009.4:c.*138_*139insAC	ENSP00000482293.1:n.*138_*139insAC
NM_000465.3:c.*138_*139insAC	NP_000456.2:n.*138_*139insAC
NM_001282543.1:c.*138_*139insAC	NP_001269472.1:n.*138_*139insAC
NM_001282545.1:c.*138_*139insAC	NP_001269474.1:n.*138_*139insAC
NM_001282548.1:c.*138_*139insAC	NP_001269477.1:n.*138_*139insAC
NM_001282549.1:c.*138_*139insAC	NP_001269478.1:n.*138_*139insAC
NR_104212.1:n.2465_2466insAC
NR_104215.1:n.2408_2409insAC
NR_104216.1:n.1664_1665insAC
XM_011511567.1:c.*138_*139insAC	XP_011509869.1:n.*138_*139insAC
XM_017004613.1:c.*138_*139insAC	XP_016860102.1:n.*138_*139insAC
NM_000465.4:c.*138_*139insAC MANE Select	NP_000456.2:n.*138_*139insAC
NM_001282543.2:c.*138_*139insAC	NP_001269472.1:n.*138_*139insAC
NM_001282545.2:c.*138_*139insAC	NP_001269474.1:n.*138_*139insAC
NM_001282548.2:c.*138_*139insAC	NP_001269477.1:n.*138_*139insAC
NM_001282549.2:c.*138_*139insAC	NP_001269478.1:n.*138_*139insAC
NR_104212.2:n.2437_2438insAC
NR_104215.2:n.2380_2381insAC
NR_104216.2:n.1636_1637insAC